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Encyclopaedia
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Pachyonychia congenita
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Article for general public
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Clinical genetics review
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Pallister-Hall syndrome
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Anesthesia guidelines
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Clinical practice guidelines
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Clinical genetics review
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Pallister-Killian syndrome
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Article for general public
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Palmoplantar keratoderma-esophageal carcinoma syndrome
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Review article
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Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
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Patient-Centered Outcome Measures (PCOMs)
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Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
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Article for general public
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Pancreatic solid pseudopapillary neoplasm
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Article for general public
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Clinical practice guidelines
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Review article
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Pancreatoblastoma
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Clinical practice guidelinesEnglish (2012) Management of Pancreatoblastoma in Children and Young Adults - J Pediatr Hematol Oncol
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Pancytopenia-developmental delay syndrome
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Clinical practice guidelinesEnglish (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
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Panner disease
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Article for general public
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Pantothenate kinase-associated neurodegeneration
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Article for general public
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Anesthesia guidelines
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Clinical practice guidelinesFrançais (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
English (2017) Consensus clinical management guideline for pantothenate kinase associated neurodegeneration (PKAN) - Mol Genet Metab
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Review article
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Panuveitis
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Article for general public
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Patient-Centered Outcome Measures (PCOMs)
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PAPA syndrome
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Article for general public
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Clinical practice guidelinesEnglish (2015) European S1 guideline for the treatment of hidradenitis suppurativa/acne inversa - J Eur Acad Dermatol Venereol
English (2019) Hidradenitis suppurativa/acne inversa: a practical framework for treatment optimization - systematic review and recommendations from the HS ALLIANCE working group - J Eur Acad Dermatol Venereol
English (2019) Hidradenitis suppurativa in a prepubertal case series: a call for specific guidelines - J Eur Acad Dermatol Venereol
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PAPASH syndrome
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Clinical practice guidelinesEnglish (2015) European S1 guideline for the treatment of hidradenitis suppurativa/acne inversa - J Eur Acad Dermatol Venereol
English (2019) Hidradenitis suppurativa/acne inversa: a practical framework for treatment optimization - systematic review and recommendations from the HS ALLIANCE working group - J Eur Acad Dermatol Venereol
English (2019) Hidradenitis suppurativa in a prepubertal case series: a call for specific guidelines - J Eur Acad Dermatol Venereol
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Papillary glioneuronal tumor
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Clinical practice guidelinesEnglish (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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Papillary intralymphatic angioendothelioma
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Article for general public
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Review article
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Papillary renal cell carcinoma
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Clinical practice guidelines
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Review article
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Papillary tumor of the pineal region
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Clinical practice guidelinesEnglish (2022) Diagnosis and Treatment of Pineal Region Tumors in Adults: A EURACAN Overview - Cancers
English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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Papilloma of choroid plexus
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Clinical practice guidelinesEnglish (2020) Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes - Eur J Hum Genet
English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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Papillon-Lefèvre syndrome
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Clinical practice guidelines
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Parachute tricuspid valve
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Clinical practice guidelines
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Paramyotonia congenita of Von Eulenburg
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Article for general public
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Clinical practice guidelines
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Paraneoplastic cerebellar degeneration
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Article for general public
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Clinical practice guidelines
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Paraneoplastic neurologic syndrome
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Review article
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Paraneoplastic pemphigus
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Clinical practice guidelinesEnglish (2015) Pemphigus. S2 Guideline for diagnosis and treatment--guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV) - J Eur Acad Dermatol Venereol
English (2020) Diagnosis and management of pemphigus: Recommendations of an international panel of experts - J Am Acad Dermatol
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Paraneoplastic uveitis
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Patient-Centered Outcome Measures (PCOMs)
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Paraparetic variant of Guillain-Barré syndrome
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Patient-Centered Outcome Measures (PCOMs)
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Parathyroid carcinoma
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Clinical genetics review
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Paris-Trousseau thrombocytopenia
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Clinical practice guidelines
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Guidance for genetic testing
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Parkes Weber syndrome
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Article for general public
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Emergency guidelines
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Anesthesia guidelines
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Clinical genetics review
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Parkinson-dementia complex of Guam
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Clinical genetics review
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Paroxysmal cold hemoglobinuria
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Clinical practice guidelines
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Paroxysmal dyskinesia
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Clinical practice guidelines
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Review articleEnglish (2011) Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis - Lancet Neurol
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Clinical genetics review
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Paroxysmal dystonia
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Clinical practice guidelines
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Clinical genetics review
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Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
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Clinical practice guidelines
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Paroxysmal exertion-induced dyskinesia
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Clinical practice guidelines
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Review articleEnglish (2011) Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis - Lancet Neurol
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Clinical genetics review
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Paroxysmal extreme pain disorder
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Clinical genetics review
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Paroxysmal kinesigenic dyskinesia
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Clinical practice guidelines
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Review articleEnglish (2011) Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis - Lancet Neurol
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Clinical genetics review
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Paroxysmal nocturnal hemoglobinuria
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Article for general public
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Emergency guidelines
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Anesthesia guidelines
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Clinical practice guidelinesEnglish (2018) How we treat paroxysmal nocturnal hemoglobinuria: A consensus statement of the Canadian PNH Network and review of the national registry - Eur J Haematol
English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
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Review article
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Disability factsheet
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Patient-Centered Outcome Measures (PCOMs)
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Paroxysmal non-kinesigenic dyskinesia
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Clinical practice guidelines
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Review articleEnglish (2011) Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis - Lancet Neurol
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Clinical genetics review
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Partial androgen insensitivity syndrome
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Article for general public
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Clinical practice guidelines
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Review article
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Clinical genetics review
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Partial atrioventricular septal defect
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Clinical practice guidelines
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Partial atrioventricular septal defect with ventricular hypoplasia
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Clinical practice guidelines
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Partial atrioventricular septal defect without ventricular hypoplasia
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Clinical practice guidelines
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Partial deletion of the long arm of chromosome 13 syndrome
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Article for general public
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Partial deletion of the long arm of chromosome 16 syndrome
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Article for general public
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Partial deletion of the long arm of chromosome 18 syndrome
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Article for general public
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Partial deletion of the long arm of chromosome 4 syndrome
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Article for general public
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Partial deletion of the short arm of chromosome 16 syndrome
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Article for general public
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Partial deletion of the short arm of chromosome 5 syndrome
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Clinical practice guidelines
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Partial deletion of the short arm of chromosome 9 syndrome
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Anesthesia guidelines
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Partial duplication of the long arm of chromosome 15 syndrome
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Clinical practice guidelines
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Partial duplication of the long arm of chromosome 18 syndrome
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Anesthesia guidelines
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Partial duplication of the long arm of chromosome 3 syndrome
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Article for general public
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Partial duplication of the short arm of chromosome 16 syndrome
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Article for general public
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Partial hydatidiform mole
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Clinical practice guidelinesEnglish (2020) Practical clinical guidelines of the EOTTD for treatment and referral of gestational trophoblastic disease - Eur J Cancer
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Partially involuting congenital hemangioma
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Clinical practice guidelines
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Review article
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PASH syndrome
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Clinical practice guidelinesEnglish (2015) European S1 guideline for the treatment of hidradenitis suppurativa/acne inversa - J Eur Acad Dermatol Venereol
English (2019) Hidradenitis suppurativa/acne inversa: a practical framework for treatment optimization - systematic review and recommendations from the HS ALLIANCE working group - J Eur Acad Dermatol Venereol
English (2019) Hidradenitis suppurativa in a prepubertal case series: a call for specific guidelines - J Eur Acad Dermatol Venereol
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PASS syndrome
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Clinical practice guidelinesEnglish (2015) European S1 guideline for the treatment of hidradenitis suppurativa/acne inversa - J Eur Acad Dermatol Venereol
English (2019) Hidradenitis suppurativa/acne inversa: a practical framework for treatment optimization - systematic review and recommendations from the HS ALLIANCE working group - J Eur Acad Dermatol Venereol
English (2019) Hidradenitis suppurativa in a prepubertal case series: a call for specific guidelines - J Eur Acad Dermatol Venereol
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Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
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Review article
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Patent urachus
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Clinical practice guidelines
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Pattern dystrophy
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Article for general public
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Clinical practice guidelines
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Pauci-immune glomerulonephritis with ANCA
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Clinical practice guidelines
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Pearson syndrome
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Article for general public
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Anesthesia guidelines
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Review article
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Clinical genetics review
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Pediatric acute respiratory distress syndrome
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Clinical practice guidelines
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Pediatric hepatocellular carcinoma
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Clinical practice guidelines
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Pediatric multiple sclerosis
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Article for general public
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Clinical practice guidelines
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Pediatric systemic lupus erythematosus
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Article for general public
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Clinical practice guidelinesEnglish (2012) Joint European League Against Rheumatism and European Renal Association-European Dialysis and Transplant Association (EULAR/ERA-EDTA) recommendations for the management of adult and paediatric lupus nephritis - Ann Rheum Dis
English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
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Review article
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Pediatric-onset glaucoma of genetic origin
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Article for general public
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Clinical practice guidelinesEnglish (2009) Canadian Ophthalmological Society evidence-based clinical practice guidelines for the management of glaucoma in the adult eye - Can J Ophthalmol
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Peeling skin syndrome
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Clinical practice guidelinesEnglish (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
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Clinical genetics review
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Peeling skin syndrome type A
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Clinical genetics review
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Peeling skin syndrome type B
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Clinical genetics review
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Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
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Clinical practice guidelinesEnglish (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
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Patient-Centered Outcome Measures (PCOMs)
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Pelizaeus-Merzbacher disease
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Article for general public
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Clinical practice guidelines
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Review article
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Clinical genetics review
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Pelizaeus-Merzbacher disease in female carriers
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Article for general public
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Review article
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Clinical genetics review
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Pelizaeus-Merzbacher disease, classic form
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Article for general public
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Review article
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Clinical genetics review
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Pelizaeus-Merzbacher disease, connatal form
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Article for general public
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Review article
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Clinical genetics review
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Pelizaeus-Merzbacher disease, transitional form
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Article for general public
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Review article
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Clinical genetics review
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Pelizaeus-Merzbacher-like disease
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Clinical genetics review
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Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
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Review article
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Pelizaeus-Merzbacher-like disease due to GJC2 mutation
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Clinical practice guidelines
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Review article
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Clinical genetics review
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Pelvis-shoulder dysplasia
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Clinical practice guidelines
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Pemphigoid gestationis
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Clinical practice guidelinesEnglish (2015) Pemphigus. S2 Guideline for diagnosis and treatment--guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV) - J Eur Acad Dermatol Venereol
English (2020) Diagnosis and management of pemphigus: Recommendations of an international panel of experts - J Am Acad Dermatol
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Review article
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Pemphigus erythematosus
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Clinical practice guidelinesEnglish (2015) Pemphigus. S2 Guideline for diagnosis and treatment--guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV) - J Eur Acad Dermatol Venereol
English (2020) Diagnosis and management of pemphigus: Recommendations of an international panel of experts - J Am Acad Dermatol
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Pemphigus foliaceus
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Clinical practice guidelinesEnglish (2015) Pemphigus. S2 Guideline for diagnosis and treatment--guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV) - J Eur Acad Dermatol Venereol
English (2020) Diagnosis and management of pemphigus: Recommendations of an international panel of experts - J Am Acad Dermatol
English (2020) Updated S2K guidelines on the management of pemphigus vulgaris and foliaceus initiated by the european academy of dermatology and venereology (EADV) - J Eur Acad Dermatol Venereol
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Pemphigus vegetans
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Article for general public
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Clinical practice guidelinesEnglish (2015) Pemphigus. S2 Guideline for diagnosis and treatment--guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV) - J Eur Acad Dermatol Venereol
English (2020) Diagnosis and management of pemphigus: Recommendations of an international panel of experts - J Am Acad Dermatol
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Pemphigus vulgaris
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Article for general public
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Clinical practice guidelinesEnglish (2015) Pemphigus. S2 Guideline for diagnosis and treatment--guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV) - J Eur Acad Dermatol Venereol
English (2020) Diagnosis and management of pemphigus: Recommendations of an international panel of experts - J Am Acad Dermatol
English (2020) Updated S2K guidelines on the management of pemphigus vulgaris and foliaceus initiated by the european academy of dermatology and venereology (EADV) - J Eur Acad Dermatol Venereol
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Patient-Centered Outcome Measures (PCOMs)
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Pendred syndrome
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Article for general public
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Clinical practice guidelines
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Review article
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Clinical genetics review
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Disability factsheet
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Guidance for genetic testing
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Penile agenesis
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Clinical practice guidelinesEnglish (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
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Pentasomy X syndrome
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Article for general public
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Perihilar cholangiocarcinoma
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Clinical practice guidelines
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Perinatal lethal hypophosphatasia
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Article for general public
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Emergency guidelines
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Clinical practice guidelines
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Review article
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Clinical genetics review
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Guidance for genetic testing
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Diagnostic Keys
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Periodic fever-immunodeficiency-thrombocytopenia syndrome
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Clinical practice guidelines
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Periodic fever-infantile enterocolitis-autoinflammatory syndrome
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Patient-Centered Outcome Measures (PCOMs)
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Periodic paralysis with later-onset distal motor neuropathy
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Clinical genetics review
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Periodontal Ehlers-Danlos syndrome
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Article for general public
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Anesthesia guidelines
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Clinical practice guidelinesEnglish (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
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Review article
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Clinical genetics review
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Perioral myoclonia with absences
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Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
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Peripartum cardiomyopathy
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Review article
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Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
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Clinical genetics review
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Disability factsheet
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Peripheral neuropathy associated with monoclonal gammopathy
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Article for general public
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Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
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Patient-Centered Outcome Measures (PCOMs)
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Peripheral primitive neuroectodermal tumor
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Article for general public
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Clinical practice guidelinesEnglish (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
English (2018) Bone sarcomas: ESMO-PaedCan-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
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Review article
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Peripheral pulmonary stenosis
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Clinical practice guidelines
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Periventricular nodular heterotopia
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Clinical genetics review
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Guidance for genetic testing
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Permanent congenital hypothyroidism
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Anesthesia guidelines
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Clinical practice guidelines
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Review article
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Guidance for genetic testing
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Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
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Article for general public
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Clinical genetics review
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Peroxisomal acyl-CoA oxidase deficiency
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Guidance for genetic testing
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Peroxisome biogenesis disorder
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Article for general public
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Clinical genetics review
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Perrault syndrome
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Clinical practice guidelines
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Clinical genetics review
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Guidance for genetic testing
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Perry syndrome
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Clinical genetics review
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Persistent combined dystonia
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Clinical practice guidelines
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Persistent eustachian valve
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Clinical practice guidelines
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Persistent fifth aortic arch
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Clinical practice guidelines
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Persistent hyperplastic primary vitreous
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Clinical genetics review
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Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
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Clinical practice guidelines
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Persistent left superior vena cava connecting to the roof of left-sided atrium
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Clinical practice guidelines
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Persistent Müllerian duct syndrome
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Clinical practice guidelinesEnglish (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
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Peters plus syndrome
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Clinical genetics review
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Guidance for genetic testing
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Peutz-Jeghers syndrome
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Clinical practice guidelinesEnglish (2021) The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline - J Clin Med
English (2019) Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Endoscopy
English (2023) Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults - Digestion
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Review article
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Clinical genetics review
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PFAPA syndrome
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Article for general public
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Clinical practice guidelines
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Diagnostic Keys
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Review article
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Pfeiffer syndrome
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Article for general public
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Anesthesia guidelines
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Clinical practice guidelines
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Review article
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Clinical genetics review
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Disability factsheet
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Pfeiffer syndrome type 1
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Article for general public
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Anesthesia guidelines
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Clinical genetics review
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Pfeiffer syndrome type 2
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Article for general public
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Anesthesia guidelines
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Clinical genetics review
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Pfeiffer syndrome type 3
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Article for general public
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Anesthesia guidelines
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Clinical genetics review
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PGM1-CDG
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Clinical practice guidelinesEnglish (2020) International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management - J Inherit Metab Dis
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Clinical genetics reviewEnglish (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
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PGM3-CDG
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Article for general public
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Clinical practice guidelines
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Guidance for genetic testing
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PHACE syndrome
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Clinical practice guidelines
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Review article
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Phacoanaphylactic uveitis
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Clinical practice guidelines
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Patient-Centered Outcome Measures (PCOMs)
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Diagnostic Keys
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Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
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Patient-Centered Outcome Measures (PCOMs)
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Phelan-McDermid syndrome
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Article for general publicEnglish (2023) Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome - Eur J Med Genet
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Anesthesia guidelines
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Clinical practice guidelinesEnglish (2023) Consensus recommendations on sleeping problems in Phelan-McDermid syndrome - Eur J Med Genet
English (2023) Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome - Eur J Med Genet
English (2023) Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome - Eur J Med Genet
English (2023) Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome - Eur J Med Genet
English (2023) Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22 - Eur J Med Genet
English (2023) Consensus recommendations on mental health issues in Phelan-McDermid syndrome. - Eur J Med Genet
English (2023) Consensus recommendations on lymphedema in Phelan-McDermid syndrome - Eur J Med Genet
English (2023) Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome - Eur J Med Genet
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Review article
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Clinical genetics review
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Disability factsheet
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Guidance for genetic testing
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Phenylketonuria
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2021) Italian national consensus statement on management and pharmacological treatment of phenylketonuria - Orphanet J Rare Dis
English (2017) The complete European guidelines on phenylketonuria: diagnosis and treatment - Orphanet J Rare Dis
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Guidance for genetic testing
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Pheochromocytoma-paraganglioma
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Emergency guidelines
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Anesthesia guidelinesEnglish (2016) Anaesthesia recommendations for patients suffering from Paraganglioma & Pheochromocytoma - Orphananesthesia
Español (2016) Recomendaciones para la anestesia de pacientes con paraganglioma y feocromocitoma - Orphananesthesia
Čeština (2016) Anaesthesia recommendations for patients suffering from Paraganglioma & Pheochromocytoma - Orphananesthesia
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Clinical practice guidelinesFrançais (2023) Recommandations du réseau national ENDOCAN-COMETE pour la prise en charge des phéochromocytomes et paragangliomes métastatiques - Bull Cancer
English (2016) European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma - Eur J Endocrinol
English (2014) Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline - J Clin Endocrinol Metab
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Guidance for genetic testing
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PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
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Clinical practice guidelines
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Phocomelia, Schinzel type
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Anesthesia guidelines
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Phosphoribosylpyrophosphate synthetase superactivity
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Clinical practice guidelines
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Clinical genetics review
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Phosphoserine aminotransferase deficiency, infantile/juvenile form
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Clinical genetics review
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Photosensitive occipital lobe epilepsy
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Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
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Pierre Robin syndrome associated with a chromosomal anomaly
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Clinical practice guidelines
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Pierre Robin syndrome associated with bone disease
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Clinical practice guidelines
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Pierre Robin syndrome associated with branchial archs anomalies
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Clinical practice guidelines
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Pierre Robin syndrome associated with collagen disease
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Clinical practice guidelines
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Pierre Robin syndrome-faciodigital anomaly syndrome
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Clinical practice guidelines
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Pierson syndrome
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Clinical practice guidelinesEnglish (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
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Review article
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PIK3CA-related overgrowth syndrome
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Clinical practice guidelinesFrançais (2020) Syndromes hypertrophiques liés au gène PIK3CA (PROS) sans atteinte cérébrale - Les syndromes CLOVES et de Klippel-Trenaunay - PNDS
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Pilocytic astrocytoma
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Clinical practice guidelinesEnglish (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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Pilomyxoid astrocytoma
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Clinical practice guidelines
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Pineal parenchymal tumor of intermediate differentiation
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Clinical practice guidelinesEnglish (2022) Diagnosis and Treatment of Pineal Region Tumors in Adults: A EURACAN Overview - Cancers
English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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Pineal tumor of neuroepithelial tissue
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Clinical practice guidelinesEnglish (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
English (2022) Diagnosis and Treatment of Pineal Region Tumors in Adults: A EURACAN Overview - Cancers
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Pineoblastoma
-
Clinical practice guidelinesEnglish (2022) Diagnosis and Treatment of Pineal Region Tumors in Adults: A EURACAN Overview - Cancers
English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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Pineocytoma
-
Clinical practice guidelinesEnglish (2022) Diagnosis and Treatment of Pineal Region Tumors in Adults: A EURACAN Overview - Cancers
English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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Pitt-Hopkins syndrome
-
Article for general public
-
Clinical practice guidelinesEnglish (2019) Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement - Clin Genet
-
Clinical genetics review
-
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Pituicytoma
-
Clinical practice guidelinesEnglish (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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Pituitary adenoma
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Clinical practice guidelinesEnglish (2011) Pituitary incidentaloma: an endocrine society clinical practice guideline - J Clin Endocrinol Metab
English (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
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Clinical genetics review
-
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Pituitary apoplexy
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Emergency guidelinesEnglish (2016) Society for endocrinology endocrine emergency guidance: Emergency management of pituitary apoplexy in adult patients - Endocr Connect
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Clinical practice guidelines
-
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Pituitary carcinoma
-
Clinical practice guidelinesEnglish (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
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-
Pituitary deficiency
-
Clinical practice guidelinesEnglish (2016) Hormonal Replacement in Hypopituitarism in Adults: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
English (2019) American Association of Clinical Endocrinologists and American College of Endocrinology Guidelines for Management of Growth Hormone Deficiency in Adults and Patients Transitioning from Pediatric to Adult Care - Endocr Pract
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Pituitary dermoid and epidermoid cysts
-
Clinical practice guidelines
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-
Pituitary gigantism
-
Clinical practice guidelinesEnglish (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
-
Clinical genetics review
-
-
Pituitary hormone deficiency of meningeal origin
-
Clinical practice guidelines
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-
Pituitary hormone deficiency of tumoral origin
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Clinical practice guidelines
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-
Pituitary hormone deficiency secondary to a granulomatous disease
-
Clinical practice guidelines
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-
Pituitary hormone deficiency secondary to storage disease
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Clinical practice guidelines
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-
Pituitary stalk interruption syndrome
-
Clinical practice guidelines
-
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Pituitary tumor
-
Clinical practice guidelinesEnglish (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
-
-
Pityriasis rubra pilaris
-
Review article
-
-
PLA2G6-associated neurodegeneration
-
Article for general public
-
Clinical practice guidelinesFrançais (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
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Clinical genetics review
-
-
Placental site trophoblastic tumor
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Clinical practice guidelinesEnglish (2020) Practical clinical guidelines of the EOTTD for treatment and referral of gestational trophoblastic disease - Eur J Cancer
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-
Plaque-form urticaria pigmentosa
-
Article for general public
-
Clinical practice guidelines
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Diagnostic Keys
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Platyspondylic dysplasia, Torrance type
-
Clinical genetics review
-
-
PLCG2-associated antibody deficiency and immune dysregulation
-
Clinical practice guidelines
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PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
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Article for general publicEnglish (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Childrens Hospital
Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Childrens Hospital
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Emergency guidelines
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Clinical practice guidelinesEnglish (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
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Disability factsheet
-
-
Plectin-related limb-girdle muscular dystrophy R17
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Clinical genetics review
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Pleomorphic liposarcoma
-
Article for general public
-
Clinical practice guidelines
-
-
Pleomorphic rhabdomyosarcoma
-
Clinical practice guidelines
-
-
Pleomorphic xanthoastrocytoma
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Clinical practice guidelinesEnglish (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
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-
Pleural mesothelioma
-
Clinical practice guidelinesEnglish (2022) Malignant pleural mesothelioma: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
English (2010) Guidelines of the European Respiratory Society and the European Society of Thoracic Surgeons for the management of malignant pleural mesothelioma - Eur Respir J
English (2010) Malignant pleural mesothelioma: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
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Review article
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Patient-Centered Outcome Measures (PCOMs)
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-
Pleuro-pericardial cyst
-
Clinical practice guidelines
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-
PLG-related hereditary angioedema with normal C1Inh
-
Emergency guidelines
-
Clinical practice guidelinesFrançais (2024) Angioedème héréditaire : diagnostic et prise en charge chez l'adulte et chez l'enfant - PNDS
Français (2021) Angidèmes Héréditaires : diagnostic et prise en charge de ladulte et de lenfant - PNDS
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Diagnostic Keys
-
-
PLIN1-related familial partial lipodystrophy
-
Clinical practice guidelinesEnglish (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
-
-
Plummer-Vinson syndrome
-
Review article
-
-
PMM2-CDG
-
Article for general public
-
Emergency guidelines
-
Clinical genetics review
-
Patient-Centered Outcome Measures (PCOMs)
-
-
PMP2-related Charcot-Marie-Tooth disease type 1
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Patient-Centered Outcome Measures (PCOMs)
-
-
PMP22-RAI1 contiguous gene duplication syndrome
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Pneumococcal meningitis
-
Clinical practice guidelines
-
-
Pneumoconiosis
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
-
POEMS syndrome
-
Clinical practice guidelines
-
Review articleEnglish (2019) POEMS Syndrome: 2019 Update on diagnosis, risk-stratification, and management - Am J Hematol
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Diagnostic criteriaEnglish (2014) POEMS syndrome: 2014 update on diagnosis, risk-stratification, and management - Am J Hematol
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-
POGLUT1-related limb-girdle muscular dystrophy R21
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Poikiloderma with neutropenia
-
Clinical practice guidelines
-
Clinical genetics review
-
Guidance for genetic testing
-
-
Poirier-Bienvenue neurodevelopmental syndrome
-
Clinical genetics review
-
-
Poland syndrome
-
Clinical practice guidelinesEnglish (2020) Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence) - Orphanet J Rare Dis
-
-
Poliomyelitis
-
Article for general public
-
Clinical practice guidelines
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Polyarteritis nodosa
-
Article for general public
-
Clinical practice guidelinesFrançais (2019) Vascularites nécrosantes systémiques (périartérite noueuse et vascularites associées aux ANCA) - PNDS
English (2020) French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides) - Orphanet J Rare Dis
English (2021) 2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Polyarteritis Nodosa - Arthritis Rheumatol
-
Review article
-
-
Polyarticular juvenile idiopathic arthritis
-
Article for general public
-
Clinical practice guidelines
-
Diagnostic Keys
-
Disability factsheet
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Polycythemia
-
Clinical practice guidelinesEnglish (2005) Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis - Br J Haematol
-
-
Polycythemia vera
-
Article for general public
-
Clinical practice guidelinesEnglish (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
English (2018) Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis - Br J Haematol
English (2022) Appropriate management of polycythaemia vera with cytoreductive drug therapy: European LeukemiaNet 2021 recommendations - Lancet Haematol
English (2017) NCCN Guidelines Insights: Myeloproliferative Neoplasms, Version 2.2018 - J Natl Compr Canc Netw
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Review article
-
Guidance for genetic testing
-
-
Polyembryoma
-
Article for general public
-
Clinical practice guidelines
-
Review article
-
-
Polyendocrine-polyneuropathy syndrome
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Patient-Centered Outcome Measures (PCOMs)
-
Guidance for genetic testing
-
-
Polyendocrinopathy
-
Emergency guidelinesPolski (2022.pdf) Autoimmunologiczny zespol niedoczynnosci wielogruczolowej typu 1 - Orphanet Urgences
-
-
Polymerase proofreading-related adenomatous polyposis
-
Guidance for genetic testing
-
-
Polymicrogyria
-
Clinical genetics review
-
-
Polymicrogyria due to TUBB2B mutation
-
Clinical genetics review
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-
Polymicrogyria with optic nerve hypoplasia
-
Article for general public
-
-
Polymyositis
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelines
-
-
Polyneuropathy associated with IgM monoclonal gammopathy
-
Article for general public
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Clinical practice guidelines
-
-
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
-
Clinical genetics review
-
-
Polyostotic fibrous dysplasia
-
Article for general public
-
Emergency guidelines
-
Review article
-
-
POMGNT1-related limb-girdle muscular dystrophy R15
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Clinical genetics review
-
Patient-Centered Outcome Measures (PCOMs)
-
-
POMGNT2-related limb-girdle muscular dystrophy R24
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Patient-Centered Outcome Measures (PCOMs)
-
-
POMT1-related limb-girdle muscular dystrophy R11
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Clinical genetics review
-
Patient-Centered Outcome Measures (PCOMs)
-
-
POMT2-related limb-girdle muscular dystrophy R14
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Clinical genetics review
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Pontine autosomal dominant microangiopathy with leukoencephalopathy
-
Clinical genetics review
-
-
Pontocerebellar hypoplasia type 1
-
Review article
-
Clinical genetics review
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Pontocerebellar hypoplasia type 2
-
Review article
-
Clinical genetics review
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Pontocerebellar hypoplasia type 3
-
Review article
-
-
Pontocerebellar hypoplasia type 4
-
Review article
-
Clinical genetics review
-
-
Pontocerebellar hypoplasia type 6
-
Review article
-
-
Pontocerebellar hypoplasia type 9
-
Guidance for genetic testing
-
-
Poorly differentiated thymic neuroendocrine carcinoma
-
Clinical practice guidelinesEnglish (2015) Thymic epithelial tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
-
Review article
-
-
Porencephaly
-
Clinical genetics review
-
-
Porokeratosis
-
Review articleEnglish (2020) Porokeratosis: A Review of its Pathophysiology, Clinical Manifestations, Diagnosis, and Treatment - Actas Dermosifiliogr
Español (2020) Poroqueratosis. Revisión de su etiopatogenia, manifestaciones clínicas, diagnóstico y tratamiento - Actas Dermosifiliogr
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-
Porokeratosis of Mibelli
-
Review articleEnglish (2020) Porokeratosis: A Review of its Pathophysiology, Clinical Manifestations, Diagnosis, and Treatment - Actas Dermosifiliogr
Español (2020) Poroqueratosis. Revisión de su etiopatogenia, manifestaciones clínicas, diagnóstico y tratamiento - Actas Dermosifiliogr
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-
Porokeratosis plantaris palmaris et disseminata
-
Review articleEnglish (2020) Porokeratosis: A Review of its Pathophysiology, Clinical Manifestations, Diagnosis, and Treatment - Actas Dermosifiliogr
Español (2020) Poroqueratosis. Revisión de su etiopatogenia, manifestaciones clínicas, diagnóstico y tratamiento - Actas Dermosifiliogr
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-
Porphyria
-
Anesthesia guidelines
-
-
Porphyria cutanea tarda
-
Emergency guidelines
-
Anesthesia guidelines
-
-
Porphyria due to ALA dehydratase deficiency
-
Article for general public
-
Emergency guidelines
-
Anesthesia guidelines
-
-
Portosinusoidal vascular disease
-
Clinical practice guidelines
-
-
Post-traumatic pituitary deficiency
-
Clinical practice guidelines
-
-
Postaxial acrofacial dysostosis
-
Clinical practice guidelinesEnglish (2024) Optimal Diagnostic and Treatment Practices for Facial Dysostosis Syndromes: A Clinical Consensus Statement Among European Experts - J Craniofac Surg
-
-
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
-
Clinical practice guidelines
-
-
Posterior amorphous corneal dystrophy
-
Review article
-
-
Posterior column ataxia-retinitis pigmentosa syndrome
-
Article for general public
-
Clinical practice guidelines
-
Clinical genetics review
-
-
Posterior corneal dystrophy
-
Review article
-
-
Posterior cortical atrophy
-
Review article
-
-
Posterior polymorphous corneal dystrophy
-
Review article
-
Guidance for genetic testing
-
-
Posterior urethral valve
-
Clinical practice guidelines
-
-
Posterior uveitis
-
Article for general public
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Postinfectious cerebellitis
-
Article for general public
-
Clinical practice guidelines
-
-
Postinfectious vasculitis
-
Emergency guidelines
-
-
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
-
Disability factsheet
-
-
Postpoliomyelitis syndrome
-
Article for general public
-
Clinical practice guidelines
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Postsynaptic congenital myasthenic syndromes
-
Clinical practice guidelines
-
Review article
-
Clinical genetics review
-
-
Potassium-aggravated myotonia
-
Clinical practice guidelines
-
-
PPARG-related familial partial lipodystrophy
-
Clinical practice guidelinesEnglish (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
-
Guidance for genetic testing
-
-
PPoma
-
Clinical practice guidelines
-
Review articleEnglish (2012) Pancreatic neuroendocrine tumors: clinical features, diagnosis and medical treatment: advances - Best Pract Res Clin Gastroenterol
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-
Prader-Willi syndrome
-
Article for general public
-
Emergency guidelines
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2013) GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome - J Clin Endocrinol Metab
English (2017) Recommendations for the diagnosis and management of Prader-Willi syndrome - J Clin Endocrinol Metab
Svenska (2023.pdf) Nationellt vårdprogram för Prader-Willis syndrom - Nationellt programområde för sällsynta sjukdomar
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Review article
-
Clinical genetics review
-
Disability factsheet
-
Guidance for genetic testing
-
-
Prader-Willi syndrome due to imprinting mutation
-
Article for general public
-
Emergency guidelines
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2013) GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome - J Clin Endocrinol Metab
English (2017) Recommendations for the diagnosis and management of Prader-Willi syndrome - J Clin Endocrinol Metab
Svenska (2023.pdf) Nationellt vårdprogram för Prader-Willis syndrom - Nationellt programområde för sällsynta sjukdomar
-
Review article
-
Clinical genetics review
-
Disability factsheet
-
Guidance for genetic testing
-
-
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
-
Article for general public
-
Emergency guidelines
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2013) GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome - J Clin Endocrinol Metab
English (2017) Recommendations for the diagnosis and management of Prader-Willi syndrome - J Clin Endocrinol Metab
Svenska (2023.pdf) Nationellt vårdprogram för Prader-Willis syndrom - Nationellt programområde för sällsynta sjukdomar
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Review article
-
Clinical genetics review
-
Disability factsheet
-
Guidance for genetic testing
-
-
Prader-Willi syndrome due to paternal 15q11q13 deletion
-
Article for general public
-
Emergency guidelines
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2013) GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome - J Clin Endocrinol Metab
English (2017) Recommendations for the diagnosis and management of Prader-Willi syndrome - J Clin Endocrinol Metab
Svenska (2023.pdf) Nationellt vårdprogram för Prader-Willis syndrom - Nationellt programområde för sällsynta sjukdomar
-
Review article
-
Clinical genetics review
-
Disability factsheet
-
Guidance for genetic testing
-
-
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
-
Article for general public
-
Emergency guidelines
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2013) GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome - J Clin Endocrinol Metab
English (2017) Recommendations for the diagnosis and management of Prader-Willi syndrome - J Clin Endocrinol Metab
Svenska (2023.pdf) Nationellt vårdprogram för Prader-Willis syndrom - Nationellt programområde för sällsynta sjukdomar
-
Review article
-
Clinical genetics review
-
Disability factsheet
-
Guidance for genetic testing
-
-
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
-
Article for general public
-
Emergency guidelines
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2013) GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome - J Clin Endocrinol Metab
English (2017) Recommendations for the diagnosis and management of Prader-Willi syndrome - J Clin Endocrinol Metab
Svenska (2023.pdf) Nationellt vårdprogram för Prader-Willis syndrom - Nationellt programområde för sällsynta sjukdomar
-
Review article
-
Clinical genetics review
-
Disability factsheet
-
Guidance for genetic testing
-
-
Prader-Willi syndrome due to translocation
-
Article for general public
-
Emergency guidelines
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2013) GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome - J Clin Endocrinol Metab
English (2017) Recommendations for the diagnosis and management of Prader-Willi syndrome - J Clin Endocrinol Metab
Svenska (2023.pdf) Nationellt vårdprogram för Prader-Willis syndrom - Nationellt programområde för sällsynta sjukdomar
-
Review article
-
Clinical genetics review
-
Disability factsheet
-
Guidance for genetic testing
-
-
Prader-Willi-like syndrome
-
Clinical genetics review
-
Guidance for genetic testing
-
-
PRDM8-related progressive myoclonus epilepsy
-
Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
-
-
Pre-Descemet corneal dystrophy
-
Review article
-
-
Preaxial polydactyly-colobomata-intellectual disability syndrome
-
Clinical practice guidelines
-
-
Precursor B-cell acute lymphoblastic leukemia
-
Clinical practice guidelinesEnglish (2020) Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes - Eur J Hum Genet
-
Review article
-
-
Precursor T-cell acute lymphoblastic leukemia
-
Clinical practice guidelines
-
Review article
-
-
Predisposition to invasive fungal disease due to CARD9 deficiency
-
Clinical practice guidelines
-
-
Predisposition to severe viral infection due to IRF7 deficiency
-
Clinical practice guidelines
-
-
Predominantly large-vessel vasculitis
-
Article for general public
-
Clinical practice guidelinesEnglish (2020) 2018 Update of the EULAR recommendations for the management of large vessel vasculitis - Ann Rheum Dis
-
-
Predominantly medium-vessel vasculitis
-
Article for general public
-
Emergency guidelines
-
-
Predominantly small-vessel vasculitis
-
Article for general public
-
Emergency guidelines
-
-
Preeclampsia
-
Anesthesia guidelines
-
Clinical practice guidelines
-
-
Premature closure of the arterial duct
-
Clinical practice guidelines
-
-
Prenatal benign hypophosphatasia
-
Article for general public
-
Emergency guidelines
-
Clinical practice guidelines
-
Review article
-
Clinical genetics review
-
Patient-Centered Outcome Measures (PCOMs)
-
Guidance for genetic testing
-
Diagnostic Keys
-
-
Prenatal-onset spinal muscular atrophy with congenital bone fractures
-
Anesthesia guidelines
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Prepubertal anorexia nervosa
-
Clinical practice guidelines
-
-
Presynaptic congenital myasthenic syndromes
-
Clinical practice guidelines
-
Review article
-
Clinical genetics review
-
-
Primary acquired red cell aplasia
-
Clinical practice guidelinesEnglish (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
-
-
Primary adrenal insufficiency
-
Emergency guidelines
-
Clinical practice guidelinesEnglish (2016) Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
-
-
Primary angiitis of the central nervous system
-
Article for general public
-
Emergency guidelines
-
Clinical practice guidelines
-
-
Primary biliary cholangitis
-
Clinical practice guidelinesEnglish (2017) EASL Clinical Practice Guidelines: The diagnosis and management of patients with primary biliary cholangitis - J Hepatol
-
Review article
-
-
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
-
Clinical practice guidelines
-
-
Primary bone dysplasia with decreased bone density
-
Diagnostic Keys
-
-
Primary bone dysplasia with defective bone mineralization
-
Diagnostic Keys
-
-
Primary CD59 deficiency
-
Clinical practice guidelinesEnglish (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
-
-
Primary central nervous system lymphoma
-
Clinical practice guidelines
-
-
Primary ciliary dyskinesia
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2017) European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia - Eur Respir J
English (2020) International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria) - Eur Respir J
English (2009) Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children - Eur Respir J
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Review articleEnglish (2019) Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia - Transl Sci Rare Dis
-
Clinical genetics review
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Primary congenital hypothyroidism
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Review article
-
Guidance for genetic testing
-
-
Primary congenital hypothyroidism without thyroid developmental anomaly
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Review article
-
Guidance for genetic testing
-
-
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Primary cutaneous anaplastic large cell lymphoma
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Primary cutaneous B-cell lymphoma
-
Clinical practice guidelines
-
-
Primary cutaneous CD30+ T-cell lymphoproliferative disease
-
Clinical practice guidelines
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Primary cutaneous gamma/delta-positive T-cell lymphoma
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Primary cutaneous lymphoma
-
Clinical practice guidelines
-
Review article
-
-
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Primary cutaneous plasmacytosis
-
Article for general public
-
Clinical practice guidelines
-
Review article
-
Diagnostic criteria
-
Diagnostic Keys
-
-
Primary cutaneous T-cell lymphoma
-
Clinical practice guidelines
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Primary dystonia, DYT13 type
-
Clinical practice guidelines
-
Clinical genetics review
-
-
Primary dystonia, DYT17 type
-
Clinical practice guidelines
-
Clinical genetics review
-
-
Primary dystonia, DYT2 type
-
Clinical practice guidelines
-
-
Primary dystonia, DYT21 type
-
Clinical practice guidelines
-
-
Primary dystonia, DYT27 type
-
Clinical practice guidelines
-
Clinical genetics review
-
-
Primary dystonia, DYT4 type
-
Clinical practice guidelines
-
Clinical genetics review
-
-
Primary dystonia, DYT6 type
-
Clinical practice guidelines
-
Clinical genetics review
-
-
Primary early-onset glaucoma
-
Article for general public
-
Clinical practice guidelinesEnglish (2009) Canadian Ophthalmological Society evidence-based clinical practice guidelines for the management of glaucoma in the adult eye - Can J Ophthalmol
-
-
Primary erythromelalgia
-
Review article
-
Clinical genetics review
-
-
Primary familial polycythemia
-
Clinical practice guidelinesEnglish (2005) Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis - Br J Haematol
-
Clinical genetics review
-
Guidance for genetic testing
-
-
Primary Fanconi renotubular syndrome
-
Clinical practice guidelines
-
-
Primary germ cell tumor of central nervous system
-
Clinical practice guidelines
-
Review article
-
-
Primary hemophagocytic lymphohistiocytosis
-
Clinical practice guidelinesEnglish (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
English (2019) Recommendations for the management of hemophagocytic lymphohistiocytosis in adults - Blood
-
Review article
-
-
Primary hemophagocytic lymphohistiocytosis with hypopigmentation
-
Clinical practice guidelines
-
Review article
-
-
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
-
Clinical practice guidelinesEnglish (2016) The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
-
-
Primary hypereosinophilic syndrome
-
Article for general public
-
Diagnostic Keys
-
Emergency guidelines
-
Clinical practice guidelines
-
Review article
-
-
Primary hypergonadotropic hypogonadism-partial alopecia syndrome
-
Guidance for genetic testing
-
-
Primary hyperoxaluria
-
Clinical practice guidelinesEnglish (2023) Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope - Nat Rev Urol
-
Review article
-
-
Primary hyperoxaluria type 1
-
Clinical practice guidelinesEnglish (2012) Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment - Nephrol Dial Transplant
English (2023) Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope - Nat Rev Urol
-
Review article
-
Clinical genetics review
-
-
Primary hyperoxaluria type 2
-
Clinical practice guidelinesEnglish (2023) Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope - Nat Rev Urol
-
Review article
-
Clinical genetics review
-
-
Primary hyperoxaluria type 3
-
Clinical practice guidelinesEnglish (2023) Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope - Nat Rev Urol
-
Review article
-
Clinical genetics review
-
-
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Guidance for genetic testing
-
-
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
-
Clinical practice guidelines
-
Guidance for genetic testing
-
-
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
-
Guidance for genetic testing
-
-
Primary hypomagnesemia with secondary hypocalcemia
-
Guidance for genetic testing
-
-
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
-
Clinical practice guidelines
-
-
Primary hypophysitis
-
Clinical practice guidelines
-
-
Primary immunodeficiency
-
Clinical practice guidelines
-
-
Primary immunodeficiency due to a defect in adaptive immunity
-
Clinical practice guidelines
-
-
Primary immunodeficiency due to a defect in innate immunity
-
Clinical practice guidelines
-
-
Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
-
Review article
-
-
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
-
Emergency guidelines
-
Clinical practice guidelines
-
-
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
-
Clinical practice guidelines
-
-
Primary immunodeficiency with predisposition to severe viral infection
-
Clinical practice guidelines
-
-
Primary inferior vena cava aneurysm
-
Clinical practice guidelines
-
-
Primary interstitial lung disease in childhood and adulthood
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
-
Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
-
Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
-
Primary interstitial lung disease specific to adulthood
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
-
Primary interstitial lung disease specific to childhood
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
Review article
-
-
Primary interstitial lung disease specific to childhood due to alveolar structure disorder
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
Review article
-
-
Primary interstitial lung disease specific to childhood due to alveolar vascular disorder
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
Review article
-
-
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
-
Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
-
-
Primary intestinal lymphangiectasia
-
Clinical practice guidelines
-
Review article
-
-
Primary intraocular lymphoma
-
Clinical practice guidelines
-
-
Primary lateral sclerosis
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Primary lipodystrophy
-
Clinical practice guidelinesEnglish (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
-
-
Primary localized amyloidosis
-
Article for general public
-
Emergency guidelines
-
Review article
-
-
Primary lymphedema
-
Article for general public
-
Clinical practice guidelinesEnglish (2021) 'Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)' - Orphanet J Rare Dis
-
Disability factsheet
-
-
Primary mediastinal large B-cell lymphoma
-
Review articleEnglish (2019) Biology and therapy of primary mediastinal B-cell lymphoma: current status and future directions - Br J Haematol
-
-
Primary megaureter, adult-onset form
-
Clinical practice guidelinesEnglish (2014) Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system) - J Pediatr Urol
English (2014) British Association of Paediatric Urologists consensus statement on the management of the primary obstructive megaureter - J Pediatr Urol
-
-
Primary melanocytic tumor of central nervous system
-
Clinical practice guidelines
-
-
Primary membranoproliferative glomerulonephritis
-
Clinical practice guidelinesEnglish (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
-
-
Primary membranous glomerulonephritis
-
Clinical practice guidelinesEnglish (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
-
-
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
-
Clinical practice guidelines
-
-
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
-
Clinical practice guidelines
-
-
Primary myelofibrosis
-
Article for general public
-
Clinical practice guidelinesEnglish (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
English (2017) NCCN Guidelines Insights: Myeloproliferative Neoplasms, Version 2.2018 - J Natl Compr Canc Netw
-
Review articleEnglish (2018) Primary myelofibrosis: 2019 update on diagnosis, risk-stratification and management - Am J Hematol
-
-
Primary non-gestational choriocarcinoma of ovary
-
Article for general public
-
Clinical practice guidelines
-
Review article
-
-
Primary orthostatic tremor
-
Article for general public
-
Disability factsheet
-
-
Primary pediatric heart tumor
-
Review article
-
-
Primary polyarteritis nodosa
-
Article for general public
-
Clinical practice guidelinesFrançais (2019) Vascularites nécrosantes systémiques (périartérite noueuse et vascularites associées aux ANCA) - PNDS
English (2020) French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides) - Orphanet J Rare Dis
-
-
Primary progressive aphasia
-
Clinical practice guidelines
-
-
Primary pulmonary vein stenosis
-
Clinical practice guidelines
-
-
Primary sclerosing cholangitis
-
Clinical practice guidelines
-
Review article
-
-
Primary short bowel syndrome
-
Clinical practice guidelines
-
-
Primary Sjögren syndrome
-
Article for general public
-
Emergency guidelines
-
Clinical practice guidelines
-
-
Primary superior vena cava aneurysm
-
Clinical practice guidelines
-
-
Primary syringomyelia
-
Clinical practice guidelines
-
-
Primary systemic amyloidosis
-
Article for general public
-
Emergency guidelines
-
Review article
-
-
Primary tethered cord syndrome
-
Clinical practice guidelines
-
-
Primary unilateral adrenal hyperplasia
-
Clinical practice guidelinesEnglish (2016) The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
-
-
Primitive neuroectodermal tumor of the cervix uteri
-
Article for general public
-
-
Primitive neuroectodermal tumor of the corpus uteri
-
Article for general public
-
-
Proboscis lateralis
-
Clinical practice guidelines
-
-
Progeroid syndrome, Petty type
-
Clinical genetics review
-
-
Progressive autosomal recessive ataxia-deafness syndrome
-
Clinical genetics review
-
-
Progressive cavitating leukoencephalopathy
-
Review article
-
-
Progressive cone dystrophy
-
Article for general public
-
Clinical practice guidelines
-
-
Progressive dementia with neuroserpin inclusion bodies
-
Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
-
-
Progressive encephalomyelitis with rigidity and myoclonus
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelines
-
-
Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
-
Clinical practice guidelinesEnglish (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
-
Clinical genetics review
-
-
Progressive epilepsy-intellectual disability syndrome, Finnish type
-
Article for general publicEspañol (2022) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
-
Anesthesia guidelines
-
Clinical practice guidelines
-
Review articleEnglish (2016) Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis - Orphanet J Rare Dis
-
Clinical genetics review
-
-
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
-
Clinical practice guidelines
-
-
Progressive familial intrahepatic cholestasis
-
Review article
-
Clinical genetics review
-
Guidance for genetic testing
-
-
Progressive familial intrahepatic cholestasis type 1
-
Review article
-
Clinical genetics review
-
Guidance for genetic testing
-
-
Progressive familial intrahepatic cholestasis type 2
-
Clinical practice guidelines
-
Review article
-
Clinical genetics review
-
Guidance for genetic testing
-
-
Progressive familial intrahepatic cholestasis type 3
-
Review article
-
Clinical genetics review
-
Guidance for genetic testing
-
-
Progressive familial intrahepatic cholestasis type 4
-
Guidance for genetic testing
-
-
Progressive familial intrahepatic cholestasis type 5
-
Clinical genetics review
-
Guidance for genetic testing
-
-
Progressive hemifacial atrophy
-
Article for general public
-
Review article
-
-
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
-
Clinical practice guidelines
-
-
Progressive multifocal leukoencephalopathy
-
Clinical practice guidelines
-
-
Progressive muscular atrophy
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Progressive muscular dystrophy
-
Clinical practice guidelines
-
-
Progressive myoclonic epilepsy
-
Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
-
Emergency guidelines
-
-
Progressive myoclonic epilepsy type 1
-
Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
-
Emergency guidelines
-
Clinical genetics review
-
-
Progressive myoclonic epilepsy type 3
-
Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
-
Emergency guidelines
-
Anesthesia guidelines
-
Review articleEnglish (2016) Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis - Orphanet J Rare Dis
-
Clinical genetics review
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Progressive myoclonic epilepsy type 5
-
Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
-
Clinical genetics review
-
-
Progressive myoclonic epilepsy type 6
-
Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
-
Emergency guidelines
-
Clinical genetics review
-
-
Progressive myoclonic epilepsy type 7
-
Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
-
-
Progressive myoclonic epilepsy type 8
-
Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
-
-
Progressive myoclonic epilepsy type 9
-
Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
-
-
Progressive myoclonic epilepsy with dystonia
-
Article for general publicEspañol (2022) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
-
Clinical genetics review
-
-
Progressive myoclonic epilepsy with neuroserpin inclusion bodies
-
Article for general publicEspañol (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
-
-
Progressive non-fluent aphasia
-
Article for general public
-
Clinical practice guidelines
-
Clinical genetics review
-
-
Progressive osseous heteroplasia
-
Review articleEnglish (2015) Progressive osseous heteroplasia: diagnosis, treatment, and prognosis - Appl Clin Genet
-
Clinical genetics review
-
-
Progressive polyneuropathy with bilateral striatal necrosis
-
Clinical genetics review
-
-
Progressive pseudorheumatoid dysplasia
-
Clinical genetics review
-
-
Progressive supranuclear palsy
-
Clinical practice guidelines
-
Clinical genetics review
-
-
Progressive supranuclear palsy-corticobasal syndrome
-
Clinical practice guidelines
-
Clinical genetics review
-
-
Progressive supranuclear palsy-predominant parkinsonism syndrome
-
Clinical practice guidelines
-
Clinical genetics review
-
-
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
-
Clinical practice guidelines
-
-
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
-
Clinical practice guidelines
-
-
Prolactinoma
-
Clinical practice guidelinesEnglish (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
-
Clinical genetics review
-
-
Prolidase deficiency
-
Clinical genetics review
-
-
Properdin deficiency
-
Clinical practice guidelines
-
-
Propionic acidemia
-
Article for general public
-
Emergency guidelines
-
Clinical practice guidelinesEnglish (2021) Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia:First revision - J Inherit Metab Dis
English (2014) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia - Orphanet J Rare Dis
-
Clinical genetics review
-
-
Proteasome-associated autoinflammatory syndrome
-
Clinical practice guidelines
-
Review article
-
-
Proteus syndrome
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2020) Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome - Eur J Hum Genet
-
Review article
-
Clinical genetics review
-
Diagnostic criteria
-
-
Proteus-like syndrome
-
Clinical practice guidelinesEnglish (2020) Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome - Eur J Hum Genet
-
Review article
-
Clinical genetics review
-
-
Proximal 16p11.2 microdeletion syndrome
-
Article for general public
-
Clinical genetics review
-
-
Proximal 16p11.2 microduplication syndrome
-
Article for general public
-
-
Proximal myotonic myopathy
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2012) Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 - Eur J Hum Genet
-
Clinical genetics review
-
Patient-Centered Outcome Measures (PCOMs)
-
Guidance for genetic testing
-
-
Proximal renal tubular acidosis
-
Clinical practice guidelines
-
Review articleEnglish (2012) Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies - Nephrol Dial Transplant
-
-
Proximal spinal muscular atrophy
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2018) Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care - Neuromuscul Disord
-
Review article
-
Clinical genetics review
-
Patient-Centered Outcome Measures (PCOMs)
-
Guidance for genetic testing
-
-
Proximal spinal muscular atrophy type 1
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2018) Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care - Neuromuscul Disord
-
Review article
-
Clinical genetics review
-
Disability factsheet
-
Patient-Centered Outcome Measures (PCOMs)
-
Guidance for genetic testing
-
-
Proximal spinal muscular atrophy type 2
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2018) Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care - Neuromuscul Disord
-
Review article
-
Clinical genetics review
-
Disability factsheet
-
Patient-Centered Outcome Measures (PCOMs)
-
Guidance for genetic testing
-
-
Proximal spinal muscular atrophy type 3
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2018) Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care - Neuromuscul Disord
-
Review article
-
Clinical genetics review
-
Disability factsheet
-
Patient-Centered Outcome Measures (PCOMs)
-
Guidance for genetic testing
-
-
Proximal spinal muscular atrophy type 4
-
Article for general public
-
Anesthesia guidelines
-
Clinical practice guidelinesEnglish (2018) Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care - Neuromuscul Disord
-
Review article
-
Clinical genetics review
-
Disability factsheet
-
Patient-Centered Outcome Measures (PCOMs)
-
Guidance for genetic testing
-
-
Proximal Xq28 duplication syndrome
-
Article for general public
-
Clinical practice guidelines
-
Review article
-
Clinical genetics review
-
-
Prune belly syndrome
-
Article for general public
-
Clinical practice guidelines
-
Review articleEnglish (2018) Prune belly syndrome: Approaches to its diagnosis and management - Intractable Rare Dis Res
-
-
PsAPASH syndrome
-
Clinical practice guidelinesEnglish (2015) European S1 guideline for the treatment of hidradenitis suppurativa/acne inversa - J Eur Acad Dermatol Venereol
English (2019) Hidradenitis suppurativa/acne inversa: a practical framework for treatment optimization - systematic review and recommendations from the HS ALLIANCE working group - J Eur Acad Dermatol Venereol
English (2019) Hidradenitis suppurativa in a prepubertal case series: a call for specific guidelines - J Eur Acad Dermatol Venereol
-
-
Pseudo-von Willebrand disease
-
Emergency guidelines
-
Clinical practice guidelines
-
Guidance for genetic testing
-
-
Pseudoachondroplasia
-
Article for general public
-
Clinical genetics review
-
-
Pseudohypoaldosteronism type 1
-
Article for general public
-
-
Pseudohypoaldosteronism type 2
-
Clinical genetics review
-
-
Pseudohypoaldosteronism type 2A
-
Clinical genetics review
-
-
Pseudohypoaldosteronism type 2B
-
Clinical genetics review
-
-
Pseudohypoaldosteronism type 2C
-
Clinical genetics review
-
-
Pseudohypoaldosteronism type 2D
-
Clinical genetics review
-
-
Pseudohypoaldosteronism type 2E
-
Clinical genetics review
-
-
Pseudohypoparathyroidism
-
Clinical practice guidelinesEnglish (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol
English (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol.
-
Review article
-
Guidance for genetic testing
-
-
Pseudohypoparathyroidism type 1A
-
Clinical practice guidelinesEnglish (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol
English (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol
-
Review article
-
Clinical genetics review
-
-
Pseudohypoparathyroidism type 1B
-
Clinical practice guidelinesEnglish (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol
English (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol
-
Review article
-
Clinical genetics review
-
-
Pseudohypoparathyroidism type 1C
-
Clinical practice guidelinesEnglish (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol
English (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol
-
Review article
-
Clinical genetics review
-
-
Pseudohypoparathyroidism type 2
-
Clinical practice guidelinesEnglish (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol
English (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol
-
Review article
-
-
Pseudohypoparathyroidism with Albright hereditary osteodystrophy
-
Clinical practice guidelinesEnglish (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol.
-
Review article
-
Guidance for genetic testing
-
-
Pseudohypoparathyroidism without Albright hereditary osteodystrophy
-
Clinical practice guidelinesEnglish (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol.
English (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol.
-
Review article
-
Guidance for genetic testing
-
-
Pseudoleprechaunism syndrome, Patterson type
-
Clinical practice guidelinesEnglish (2015) Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
-
Patient-Centered Outcome Measures (PCOMs)
-
-
Pseudomyxoma peritonei
-
Clinical practice guidelines
-
Review articleEnglish (2021) Consensuses and controversies on pseudomyxoma peritonei: a review of the published consensus statements and guidelines - Orphanet J Rare Dis
-
-
Pseudopseudohypoparathyroidism
-
Clinical practice guidelinesEnglish (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol
English (2018) Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement - Nat Rev Endocrinol
-
Review article
-
Clinical genetics review
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Pseudoxanthoma elasticum
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Article for general public
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Clinical practice guidelines
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Review article
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Clinical genetics review
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Guidance for genetic testing
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Pseudoxanthomatous diffuse cutaneous mastocytosis
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Article for general public
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Emergency guidelines
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Clinical practice guidelines
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Diagnostic Keys
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Psoriasis-related juvenile idiopathic arthritis
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Article for general public
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Clinical practice guidelines
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Disability factsheet
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Diagnostic Keys
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Patient-Centered Outcome Measures (PCOMs)
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PTEN hamartoma tumor syndrome
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Clinical practice guidelinesEnglish (2020) Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome - Eur J Hum Genet
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Review article
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Clinical genetics review
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Diagnostic criteriaEnglish (2013) Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria - J Natl Cancer Inst
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Pterin-4 alpha-carbinolamine dehydratase deficiency
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Clinical practice guidelinesEnglish (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies - Orphanet J Rare Dis
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Pudendal nerve entrapment syndrome
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Diagnostic criteria
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Pulmonary arterial hypertension
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
English (2023) European Society of Cardiology quality indicators for the care and outcomes of adults with pulmonary arterial hypertension. Developed in collaboration with the Heart Failure Association of the European Society of Cardiology - Eur J Heart Fail
English (2011) Treatment of pulmonary arterial hypertension (PAH): updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
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Review article
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Patient-Centered Outcome Measures (PCOMs)
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Pulmonary arterial hypertension associated with another disease
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2023) European Society of Cardiology quality indicators for the care and outcomes of adults with pulmonary arterial hypertension. Developed in collaboration with the Heart Failure Association of the European Society of Cardiology - Eur J Heart Fail
English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
English (2011) Treatment of pulmonary arterial hypertension (PAH): updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
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Review article
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Patient-Centered Outcome Measures (PCOMs)
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Pulmonary arterial hypertension associated with chronic hemolytic anemia
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2023) European Society of Cardiology quality indicators for the care and outcomes of adults with pulmonary arterial hypertension. Developed in collaboration with the Heart Failure Association of the European Society of Cardiology - Eur J Heart Fail
English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
English (2011) Treatment of pulmonary arterial hypertension (PAH): updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
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Review article
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Disability factsheet
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Patient-Centered Outcome Measures (PCOMs)
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Pulmonary arterial hypertension associated with congenital heart disease
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2023) European Society of Cardiology quality indicators for the care and outcomes of adults with pulmonary arterial hypertension. Developed in collaboration with the Heart Failure Association of the European Society of Cardiology - Eur J Heart Fail
English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
English (2011) Treatment of pulmonary arterial hypertension (PAH): updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
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Review article
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Patient-Centered Outcome Measures (PCOMs)
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Pulmonary arterial hypertension associated with connective tissue disease
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2023) European Society of Cardiology quality indicators for the care and outcomes of adults with pulmonary arterial hypertension. Developed in collaboration with the Heart Failure Association of the European Society of Cardiology - Eur J Heart Fail
English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
English (2011) Treatment of pulmonary arterial hypertension (PAH): updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
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Review article
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Patient-Centered Outcome Measures (PCOMs)
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Pulmonary arterial hypertension associated with HIV infection
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2023) European Society of Cardiology quality indicators for the care and outcomes of adults with pulmonary arterial hypertension. Developed in collaboration with the Heart Failure Association of the European Society of Cardiology - Eur J Heart Fail
English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
English (2011) Treatment of pulmonary arterial hypertension (PAH): updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
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Review article
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Patient-Centered Outcome Measures (PCOMs)
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Pulmonary arterial hypertension associated with portal hypertension
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2023) European Society of Cardiology quality indicators for the care and outcomes of adults with pulmonary arterial hypertension. Developed in collaboration with the Heart Failure Association of the European Society of Cardiology - Eur J Heart Fail
English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
English (2011) Treatment of pulmonary arterial hypertension (PAH): updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
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Review article
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Patient-Centered Outcome Measures (PCOMs)
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Pulmonary arterial hypertension associated with schistosomiasis
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Article for general public
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Emergency guidelines
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Clinical practice guidelinesEnglish (2023) European Society of Cardiology quality indicators for the care and outcomes of adults with pulmonary arterial hypertension. Developed in collaboration with the Heart Failure Association of the European Society of Cardiology - Eur J Heart Fail
English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
English (2011) Treatment of pulmonary arterial hypertension (PAH): updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
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Review article
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Patient-Centered Outcome Measures (PCOMs)
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Pulmonary artery coming from patent ductus arteriosus
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Clinical practice guidelines
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Pulmonary artery hypoplasia
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Clinical practice guidelines
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Pulmonary artery or pulmonary branch anomaly
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Clinical practice guidelines
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Pulmonary atresia with ventricular septal defect
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Clinical practice guidelinesFrançais (2010) Cardiopathies congénitales complexes : tétralogie de Fallot, atrésie pulmonaire à septum ouvert ou agénésie des valves pulmonaires avec communication interventriculaire - PNDS
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Pulmonary atresia-intact ventricular septum syndrome
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Clinical practice guidelinesFrançais (2021) Prise en charge des troubles du rythme ou de la conduction lors des cardiopathies congénitales complexes, chez ladulte - PNDS
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Pulmonary capillary hemangiomatosis
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Article for general public
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Clinical practice guidelinesEnglish (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
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Review article
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Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
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Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
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Pulmonary hypertension owing to lung disease and/or hypoxia
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Clinical practice guidelinesEnglish (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
English (2011) Pulmonary hypertension due to chronic lung disease: Updated Recommendations of the Cologne Consensus Conference 2011 - Int J Cardiol
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Pulmonary hypertension with unclear multifactorial mechanism
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Clinical practice guidelinesEnglish (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
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Pulmonary interstitial glycogenosis
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Clinical practice guidelinesEnglish (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
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Pulmonary non-tuberculous mycobacterial infection
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Clinical practice guidelinesEnglish (2020) Treatment of nontuberculous mycobacterial pulmonary disease: an official ATS/ERS/ESCMID/IDSA clinical practice guideline - Eur Respir J
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Pulmonary valve agenesis
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Clinical practice guidelines
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Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
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Clinical practice guidelinesFrançais (2008) Cardiopathies congénitales complexes : Transposition simple des gros vaisseaux - PNDS
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Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
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Clinical practice guidelines
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Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
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Article for general public
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Clinical practice guidelinesEnglish (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
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Review article
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Pulmonary venoocclusive disease
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Article for general public
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Clinical practice guidelinesEnglish (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
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Review article
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PUM1-associated developmental disability-ataxia-seizure syndrome
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Article for general public
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Clinical practice guidelines
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Patient-Centered Outcome Measures (PCOMs)
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PUM1-related cerebellar ataxia
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Article for general public
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Clinical practice guidelines
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Punctate inner choroidopathy
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Patient-Centered Outcome Measures (PCOMs)
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PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
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Article for general public
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Anesthesia guidelines
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Clinical genetics review
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PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
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Article for general public
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Anesthesia guidelines
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Clinical genetics review
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Pure hereditary spastic paraplegia
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Article for general public
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Anesthesia guidelines
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Clinical practice guidelines
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Clinical genetics review
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Disability factsheet
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Pure or complex autosomal dominant spastic paraplegia
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Article for general public
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Clinical genetics review
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Disability factsheet
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Pure or complex autosomal recessive spastic paraplegia
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Article for general public
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Clinical genetics review
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Disability factsheet
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Pure or complex hereditary spastic paraplegia
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Article for general public
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Anesthesia guidelines
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Clinical genetics review
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Disability factsheet
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Pure or complex X-linked spastic paraplegia
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Article for general public
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Clinical genetics review
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Disability factsheet
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Purine nucleoside phosphorylase deficiency
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Clinical practice guidelines
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Pustular pyoderma gangrenosum
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Clinical practice guidelines
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Pycnodysostosis
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Article for general public
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Review article
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Clinical genetics review
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PYCR1-related De Barsy syndrome
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Anesthesia guidelines
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PYCR2-related microcephaly-progressive leukoencephalopathy
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Clinical practice guidelines
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Pyoderma gangrenosum
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Clinical practice guidelines
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Review article
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Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
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Clinical practice guidelines
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Clinical genetics review
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Pyridoxine-dependent-developmental and epileptic encephalopathy
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Clinical practice guidelines
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Clinical genetics review
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Pyruvate carboxylase deficiency
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Clinical genetics review
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Pyruvate carboxylase deficiency, benign type
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Clinical genetics review
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Pyruvate carboxylase deficiency, infantile type
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Clinical genetics review
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Pyruvate carboxylase deficiency, severe neonatal type
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Clinical genetics review
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Pyruvate dehydrogenase deficiency
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Article for general public
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Emergency guidelines
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Clinical practice guidelines
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Pyruvate dehydrogenase E1-alpha deficiency
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Article for general public
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Clinical practice guidelines
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Pyruvate dehydrogenase E1-beta deficiency
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Article for general public
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Clinical practice guidelines
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Pyruvate dehydrogenase E2 deficiency
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Article for general public
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Clinical practice guidelines
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Pyruvate dehydrogenase E3 deficiency
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Article for general public
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Clinical practice guidelines
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Pyruvate dehydrogenase E3-binding protein deficiency
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Article for general public
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Clinical practice guidelines
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Clinical genetics review
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Patient-Centered Outcome Measures (PCOMs)
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Pyruvate dehydrogenase phosphatase deficiency
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Article for general public
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Clinical practice guidelines
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Patient-Centered Outcome Measures (PCOMs)
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