Il portale delle malattie rare e dei farmaci orfani

Mitocenter - Kompetenzzentrum für angeborene Störungen im Energiestoffwechsel (Assoziiertes Nationales Zentrum im Europäischen Referenznetzwerk MetabERN) Mito-Center (Associated National Center in the European Reference Network MetabERN)

Universitätsklinikum der Paracelsus Medizinischen Privatuniversität

Zentrum für angeborene Stoffwechselstörungen (Assoziiertes Nationales Zentrum im Europäischen Referenznetzwerk MetabERN) Center for inborn errors of metabolism (Associated National Center in the European Reference Network MetabERN)

Universitätsklinikum der Paracelsus Medizinischen Privatuniversität

Ambulanz für angeborene Stoffwechselerkrankungen und Neuropädiatrie (Assoziiertes Nationales Zentrum im Europäischen Referenznetzwerk MetabERN) Outpatient clinic for inborn errors of metabolism and child neurology (Associated National Center in the European Reference Network MetabERN)

Medizinische Universität Graz

Zentrum für angeborene Stoffwechselstörungen (Assoziiertes Nationales Zentrum im Europäischen Referenznetzwerk MetabERN) Center for Inborn Errors of Metabolism (Associated National Center in the European Reference Network MetabERN)

Medizinische Universität Innsbruck

Zentrum für angeborene Stoffwechselerkrankungen (Assoziiertes Nationales Zentrum im Europäischen Referenznetzwerk MetabERN) Center for inborn errors of metabolism (Associated National Center in the European Reference Network MetabERN)

Universitätsklinikum - AKH Wien

Zentrum für angeborene Stoffwechselerkrankungen: Ambulanz für Adipositas, Fettstoffwechselstörungen und Ernährungsmedizin (Assoziiertes Nationales Zentrum im Europäischen Referenznetzwerk MetabERN) Center for inborn errors of metabolism: Outpatient clinic for obesity, disorders of lipid metabolism, and nutritional medicine (Associated National Center in the European Reference Network MetabERN)

Universitätsklinikum - AKH Wien

Multidisciplinair expertenteam/Centrum Zeldzame Ziekten - Universitair Ziekenhuis Antwerpen Multidisciplinary expert team/Centre for Rare Diseases - University Hospital of Antwerp

Antwerp University Hospital - UZA

ReferentieCentrum voor Erfelijke Metabole Aandoeningen - CEMA, Antwerpen Reference Centre of Hereditary Metabolic Disorders - Antwerp

Antwerp University Hospital - UZA

Equipe d'experts multidisciplinaire/Centre pour les maladies rares - Hôpital Universitaire de Bruxelles (H.U.B) Multidisciplinary expert team/Centre for rare diseases - Brussels University Hospital

Hôpital Universitaire de Bruxelles (H.U.B)

Centre de référence des maladies héréditaires du métabolisme - UCL Saint-Luc Reference Centre for Inherited Metabolic Diseases - UCL Saint-Luc

Cliniques universitaires Saint-Luc - UCLouvain

Centre des maladies héréditaires du métabolisme/Centrum voor de behandeling van erfelijke metabole aandoeningen - HUDERF - UZ Brussel Reference Centre of Hereditary Metabolic disorders - HUDERF - UZ Brussel

Hôpital Universitaire de Bruxelles (H.U.B) - Site HUDERF

Equipe d'experts multidisciplinaire/Centre pour les maladies rares - Cliniques Universitaires Saint-Luc Multidisciplinary expert team/Centre for rare diseases - Saint-Luc University Hospital

Cliniques universitaires Saint-Luc - UCLouvain

Multidisciplinair expertenteam/Centrum voor Zeldzame Ziekten - Universitair Ziekenhuis Brussel Multidisciplinary expert team/Centre for Rare Diseases - University Hospital of Brussels

Universitair Ziekenhuis Brussel

Equipe d'experts multidisciplinaire/Centre pour les maladies rares - Grand Hôpital de Charleroi et Institut de Pathologie et de Génétique Multidisciplinary expert team/Centre for rare diseases - Grand Hôpital de Charleroi et Institut de Pathologie et de Génétique

Grand Hôpital de Charleroi

Centre de référence des maladies héréditaires du métabolisme - IPG (membre du CIMM) Reference Centre of Hereditary Metabolic Disorders - IPG (member of the CIMM)

Institut de Pathologie et de Génétique

Centre de référence des maladies métaboliques héréditaires - CHU de Liège (membre du CIMM) Reference Centre of Hereditary Metabolic Disorders - CHU Liège (member of the CIMM)

CHU de Liège - Domaine universitaire du Sart Tilman

Equipe d'experts multidisciplinaire/Centre pour les maladies rares - CHU Liège Multidisciplinary expert team/Centre for rare diseases - CHU Liège

CHU de Liège - Domaine universitaire du Sart Tilman

Centre de référence des maladies métaboliques héréditaires - Centre Pinocchio (membre du CIMM) Reference Centre of Hereditary Metabolic Disorders - Pinocchio Centre (member of the CIMM)

Clinique CHC MontLégia

Centrum Medische Genetica Gent - UZ Gent General Genetic Counselling Clinic - Ghent University Hospital

Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent

Multidisciplinair expertenteam/Centrum voor Zeldzame Ziekten - Universitair Ziekenhuis Gent Multidisciplinary expert team/Centre for Rare Diseases - University Hospital of Ghent

Universitair ziekenhuis Gent (UZ Gent)

Referentie Centrum voor Erfelijke Metabole Aandoeningen (CEMA) - UZ Gent Reference center of hereditary metabolic disorders - UZ Gent

Universitair ziekenhuis Gent (UZ Gent)

Multidisciplinair expertenteam/Centrum Zeldzame Ziekten - Universitair Ziekenhuis Leuven Multidisciplinary expert team/Centre for Rare Diseases - University Hospitals Leuven

UZ Leuven - Campus Gasthuisberg

ReferentieCentrum voor Erfelijke Metabole Aandoeningen - UZ Leuven Reference Centre for Hereditary Metabolic Disorders - UZ Leuven

UZ Leuven - Campus Gasthuisberg

Expert center for hereditary neurologic and metabolic disorders

University Hospital Alexandrovska

Expert Center on Hereditary Metabolic Disorders

Zagreb Clinical Hospital Center

Centre for Inherited Metabolic Diseases

Rigshospitalet

Multidistsiplinaarne harvikhaiguste kompetentsikeskus Multidisciplinary expert team / Competence Centre for Rare Diseases

Competence Centre for Rare Diseases - Tartu University Hospital

Pärilike ainevahetushaiguste keskus Expert Centre of Hereditary Metabolic Disorders

Competence Centre for Rare Diseases - Tartu University Hospital

Expert Centre on Hereditary Metabolic Disorders_Helsinki

HUS - Helsinki University Hospital

Centre de référence des maladies héréditaires du métabolisme - Site constitutif Reference centre for inherited metabolic diseases - Constitutive site

CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant

Centre de référence des maladies héréditaires du métabolisme - Site constitutif Reference centre for inherited metabolic diseases - Constitutive site

CHU de Lille - Hôpital Jeanne de Flandre

Centre de référence des maladies héréditaires du métabolisme hépatique - Site coordonnateur Reference centre for inherited metabolic liver diseases - Coordinator site

Hôpital Antoine Béclère

Centre de référence des maladies lysosomales - Site constitutif Reference centre for lysosomal diseases - Constitutive site

AP-HP - Hôpital Beaujon

Centre de référence des porphyries et anémies rares du métabolisme du fer - Site coordonnateur Reference centre for porphyria and anemia due to iron metabolism disorder - Coordinator site

CHU Paris Nord-Val de Seine - Hôpital Louis Mourier

Centre de référence des maladies lysosomales : maladie de Fabry - Site constitutif Reference centre for lysosomal diseases : Fabry disease - Constitutive site

CHU Paris IdF Ouest - Hôpital Raymond Poincaré

Centre de référence de la maladie de Wilson et autres maladies rares liées au cuivre - Site coordonnateur Reference centre for Wilson disease and other disorders of copper metabolism - Coordinator site

Hôpital Fondation Adolphe de Rothschild

Centre de référence des maladies héréditaires du métabolisme - Site constitutif Reference centre for inherited metabolic diseases - Constitutive site

AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière

Centre de référence des maladies héréditaires du métabolisme - Site constitutif Reference centre for inherited metabolic diseases - Constitutive site

Hôpital Necker-Enfants Malades

Centre de référence des maladies héréditaires du métabolisme - Site coordonnateur Reference centre for inherited metabolic diseases - Coordinator site

CHU de Marseille - Hôpital de la Timone

ZSE Freiburg: Zentrum für angeborene Stoffwechselerkrankungen Rare metabolic diseases clinic

Universitätsklinikum Freiburg

ZSE Heidelberg: Zentrum für angeborene Stoffwechselerkrankungen Metabolic diseases clinic

Universitätsmedizin Heidelberg

ZSE Berlin: Fachzentrum für seltene hereditäre Stoffwechsel-Erkrankungen im Erwachsenenalter Metabolic diseases clinic

Charité - Universitätsmedizin Berlin (CVK)

ZSE Hamburg: Internationales Centrum für Lysosomale Speicherkrankheiten (ICLD) International Center for Lysosomal Disorders (ICLD)

UKE - Universitätsklinikum Hamburg-Eppendorf

ZSE Gießen: Kompetenzzentrum für lysosomale Speicherkrankheiten Lysosomal diseases clinic

Justus-Liebig-University Giessen

ZSE Hannover: Zentrum für Seltene Stoffwechselerkrankungen Metabolic diseases clinic

Medizinische Hochschule Hannover

Spezialambulanz für Morbus Wilson und andere seltene Stoffwechselerkrankungen Wilson disease and neurometabolic diseases clinic

Universitätsklinikum Düsseldorf

Interdisziplinäres Fabry-Zentrum Fabry disease clinic

Universitätsklinikum Münster

ZSE Münster: Spezialambulanz für angeborene Stoffwechselstörungen Congenital metabolic diseases clinic

Universitätsklinikum Münster

Ambulanz für Stoffwechsel- und lysosomale Erkrankungen Metabolic and lysosomal diseases clinic

Universitätsmedizin der Johannes Gutenberg-Universität Mainz

ZSE Magdeburg: Zentrum für Congenitalen Hyperinsulinismus (COACH) (Hyperinsulinism Center of Excellence) Congenital hyperinsulinism clinic

Universitätsklinikum Magdeburg A.ö.R

ZSE Magdeburg: Zentrum für Wachstumsstörungen und angeborene Skelettsystemerkrankungen Centre for growth disorders and rare bone development disorder

Universitätsklinikum Magdeburg A.ö.R

Center of Expertise for Rare Hematological (Hemoglobinopathies) & Rare Metabolic (n. Gaucher) Diseases

Laiko General Hospital

Alkaptonuria Clinic

Mater Misericordiae Hospital

Homocystinuria Clinic

Children's Health Ireland @ Temple Street

Lysosomal Disease Clinic

Mater Misericordiae Hospital

PKU clinic

Mater Misericordiae Hospital

The National Centre for Inherited Metabolic Disorders

Children's Health Ireland @ Temple Street

The National Centre for Inherited Metabolic Disorders - Adult Services

Mater Misericordiae Hospital

Centro di Riferimento per i difetti congeniti del metabolismo Centre of Expertise for inborn errors of metabolism

Azienda Ospedaliera Universitaria "Federico II"

Centro di Riferimento per la dismorfologia Centre of Expertise for dysmorphology

Azienda Ospedaliera Universitaria "Federico II"

Centro di Riferimento per le malattie metaboliche Centre of expertise for metabolic diseases

IRCCS Azienda Ospedaliero Universitaria di Bologna, Policlinico di Sant'Orsola

Centro di Riferimento Regionale per le malattie lisosomiali Regional centre of expertise for lysosomal diseases

Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine

Centro di Riferimento per le malattie metaboliche Centre of expertise for metabolic diseases

IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO

Centro di Riferimento per le malattie neurologiche e neurometaboliche rare Expert Center for rare neurologic and neurometabolic diseases

Sapienza Università di Roma - Sezione di Neuropsichiatria Infantile

Expert Center on Hereditary Metabolic Disorders_Gemelli

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Centro di Riferimento per le malattie lisosomiali e le glicogenosi Centre of Expertise for lysosomal and glycogen storage diseases

IRCCS Istituto G. Gaslini - Ospedale Pediatrico

Centro di Riferimento per i difetti congeniti del metabolismo dei lipidi Centre of Expertise for rare disorders of lipid metabolism

IRCCS Ca' Granda Ospedale Maggiore Policlinico - Padiglione De Marchi

Centro di Riferimento per le malattie metaboliche congenite Centr of Expertise for rare inborn errors of metabolism

ASST Santi Paolo e Carlo, Ospedale San Paolo - Università degli Studi di Milano

Centro di Riferimento per i difetti congeniti del metabolismo Centre of Expertise for inborn errors of metabolism

Fondazione IRCCS San Gerardo

Centro di Riferimento per l'emocromatosi ereditaria e le alterazioni congenite del metabolismo del ferro Centre of Expertise for hereditary hemochromatosis and the disorders of iron metabolism

A.O.U. Città della Salute e della Scienza di Torino - Ospedale Molinette

Centro di Riferimento per i difetti congeniti del metabolismo Centre of Expertise for inborn errors of metabolism

Azienda Ospedaliero Universitaria Policlinico "G.Rodolico - San Marco"

Centro di Riferimento per i difetti congeniti del metabolismo Centre of Expertise for inborn errors of metabolism

Azienda Ospedaliera Universitaria Anna Meyer I.R.C.C.S.

Centro di Riferimento per le lipodistrofie Centre of Expertise for lipodystrophy

Azienda Ospedaliero Universitaria Pisana - Ospedale Cisanello

Centro di Riferimento per le malattie neurologiche rare Centre of Expertise for rare neurologic diseases

Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte

Centro di Riferimento per le malattie metaboliche ereditarie Centre of Expertise for metabolic diseases

Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano

Centro di Riferimento per le malattie metaboliche ereditarie Centre of Expertise for rare inborn errors of metabolism

Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Trento

Bernu slimibu klinikas Endokrinologijas profils Children`s disease unit, Endocrinology department

Children's Clinical University Hospital

Reference Center For Hereditary Metabolic Diseases Reference Center For Hereditary Metabolic Diseases

Vilnius University Hospital Santariskiu Klinikos

NAPOS - Nasjonalt kompetansesenter for porfyrisykdommer NAPOS - Norwegian Porphyria Centre

Haukeland University Hospital

Nasjonal behandlingstjeneste for screening av nyfødte og avansert laboratoriediagnostikk ved medfødte stoffskiftesykdommer

Oslo University Hospital, Rikshospitalet

Radboudumc Expertisecentrum voor Erfelijke Metabole Ziekten Radboudumc Center of Expertise for Inherited Metabolic Disorders

Radboudumc - Radboud universitair medisch centrum

UMCG Expertisecentrum voor Aandoeningen van Koolhydraat, Vetzuuroxidatie en Ketonlichaam Metabolisme UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders

UMCG - Universitair Medisch Centrum Groningen

UMCG Expertisecentrum voor Stofwisselingsziekten van Aminozuren en Organische Zuren UMCG Center of Expertise for Defects in Amino Acid and Organic Acid Metabolism

UMCG - Universitair Medisch Centrum Groningen

Maastricht UMC+ Expertisecentrum voor Stoornissen in het Galactose Metabolisme Maastricht UMC+ Center of Expertise for Inborn Errors of Galactose Metabolism

Maastricht UMC+

Amsterdam UMC Expertisecentrum voor Erfelijke Metabole Ziekten Amsterdam UMC Expert Center for Inborn Errors of Metabolism

Amsterdam UMC

CIMD-UMCU - UMC Utrecht-Bartiméus Expertisecentrum voor Erfelijke Metabole Ziekten CIMD-UMCU - UMC Utrecht-Bartiméus Center of Expertise for Inherited Metabolic Diseases

UMC Utrecht - Universitair Medisch Centrum Utrecht

Erasmus MC Expertisecentrum voor Lysosomale en Metabole Ziekten Erasmus MC Center of Expertise for Lysosomal and Metabolic Diseases

Erasmus MC - Erasmus Medisch Centrum

Erasmus MC Expertisecentrum voor Zeldzame Erfelijke Dyslipidemieën Erasmus MC Center of Expertise for Rare Hereditary Dyslipidemias

Erasmus MC - Erasmus Medisch Centrum

Klinika Rzadkich Postaci Cukrzycy i Choroby Gauchera Expert Center for rare Metabolic Diseases

Szpital Uniwersytecki w Krakowie

Klinika Rzadkich Chorób Metabolicznych Expert center on metabolic diseases

Instytut "Pomnik-Centrum Zdrowia Dziecka"

Expert Center on Hereditary Metabolic Disorders

Instytut Matki i Dziecka

Centro de Referência de Doenças Hereditárias do Metabolismo - ULSC, EPE (MetabERN) Expert Centre for Rare Inherited Methabolic Diseases - ULSC, EPE (MetabERN)

Unidade Local de Saúde de Coimbra, EPE - ULSC, EPE [CHUC]

Centro de Referência de Doenças Lisossomais de Sobrecarga - HSOG, EPE (MetabERN) Reference Center for Lysosomal Storage Disorders - HSOG, EPE (MetabERN)

Unidade Local de Saúde do Alto Ave, EPE - ULSAA, EPE [HSOG]

Centro de Referência de Doenças Hereditárias do Metabolismo - CHUSJ, EPE (MetabERN) Reference Centre for Inherited Methabolic Diseases - CHUSJ, EPE (MetabERN)

Unidade Local de Saúde de São João, EPE - ULSSJ, EPE [CHUSJ]

Consulta de Doenças Metabólicas - ULSSA, EPE Metabolic diseases clinic - ULSSA, EPE

Unidade Local de Saúde de Santo António, EPE - ULSSA, EPE [CHUSA/CMIN]

Centro de Referência de Doenças Hereditárias do Metabolismo - CHULC, EPE (MetabERN) Reference Centre for Inherited Metabolic Diseases - CHULC, EPE_Lisbon (MetabERN)

Unidade Local de Saúde de São José, EPE - ULSSJ, EPE [CHULC/HDE]

Centro de Referência de Doenças Hereditárias do Metabolismo - CHULN, EPE (MetabERN) Reference Centre for Inherited Metabolic Diseases - CHULN, EPE (MetabERN)

Unidade Local de Saúde de Santa Maria, EPE - ULSSM, EPE [CHULN]

Centrum vysoce specializovane pece pro vzacna dediena metabolicka onemocnení Highly specialized care center for rare hereditary metabolic diseases

Institute of Interited Metabolic Disorders

Expertise Center for Rare Metabolic Diseases (Lysosomal diseases)

Spitalul Judetean Clinc de Urgenta Cluj

Centrum dedicnych metabolickych poruch Center for Inherited Metabolic Diseases

DebRA SR

Expertne centrum pre lyzozomove choroby

DebRA SR

Expert Center on Hereditary Metabolic Disorders

University Medical Center Ljubljana

CSUR - Unidad de referencia nacional en enfermedades metabólicas congénitas CSUR - National unit of expertise for congenital metabolic diseases

Hospital Universitario Virgen del Rocío

CSUR - Unidad de referencia nacional en enfermedades metabólicas congénitas CSUR - National unit of expertise for congenital metabolic diseases

Hospital Universitari Vall d'Hebron

CSUR - Unidad de referencia nacional en enfermedades metabólicas congénitas CSUR - National unit of expertise for congenital metabolic diseases

Hospital Sant Joan de Déu Barcelona

CSUR - Unidad de referencia nacional en enfermedades metabólicas congénitas CSUR - National unit of expertise for congenital metabolic diseases

Hospital Clínico Universitario de Santiago

CSUR - Unidad de referencia nacional en enfermedades metabólicas congénitas CSUR - National unit of expertise for congenital metabolic diseases

Hospital Universitario Ramón y Cajal

CSUR - Unidad de referencia nacional en enfermedades metabólicas congénitas (adultos) CSUR - National unit of expertise for congenital metabolic diseases (adults)

Hospital Universitario 12 de Octubre

CSUR - Unidad de referencia nacional en enfermedades metabólicas congénitas (pediátrico) CSUR - National unit of expertise for congenital metabolic diseases (pediatric)

Hospital Universitario 12 de Octubre

CSUR - Unidad de referencia nacional en enfermedades metabólicas congénitas CSUR - National unit of expertise for congenital metabolic diseases

Hospital Universitario de Cruces

Expertteamet för medfödda metabola sjukdomar hos barn, MetabERN

Karolinska Universitetssjukhuset

Expertteamet för medfödda metabola sjukdomar hos vuxna, MetabERN

Karolinska Universitetssjukhuset

Porfyricentrum, MetabERN

Karolinska Universitetssjukhuset

Expertteam för neurometabola sjukdomar, MetabERN Expert team for neurometabolic disorders, MetabERN

Sahlgrenska University Hospital, Queen Silvia Children's Hospital

Expert Center on Hereditary Metabolic Disorders

University of Debrecen