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Finanziato da un ente associato a IRDiRC =

Registri and biobanche

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Central Registry of Rare Diseases (CRRD)
Sciensano
Health Services Research - Rare Diseases

SPAGNA

Andalucía
SEVILLA

Registry for rare diseases in Andalusia (Spain)
Junta de Andalucía. Consejería de Salud y Bienestar Social
Dirección General de Calidad, Investigación y Gestión del Conocimiento

SPAGNA

Aragón
ZARAGOZA

Rare disease registry of Aragon (Spain)
Gobierno de Aragón. Departamento de Sanidad, Bienestar Social y Familia
Servicio de Evaluación y Acreditación Sanitaria

SPAGNA

Baleares
PALMA DE MALLORCA

Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Servicio de Epidemiología

SPAGNA

Baleares
PALMA DE MALLORCA

Population registry of rare diseases of Balearic Islands (Spain)
Govern de les Illes Balears. Dirección General de Salud Pública y Consumo
Dirección General de Salud Pública y Consumo

SPAGNA

Cantabria
SANTANDER

Population registry of rare diseases and congenital anomalies of Cantabria (Spain)
Gobierno de Cantabria. Consejería de Sanidad y Servicios Sociales
Servicio de Atención Sanitaria

SPAGNA

Comunidad Valenciana
VALENCIA

SIER-CV: Information System on rare diseases in Valencian Community (Spain)
FISABIO - Salud Pública
Área de Enfermedades Raras

SPAGNA

Extremadura
MÉRIDA

Registry for rare diseases in Extremadura (Spain)
Junta de Extremadura. Servicio Extremeño de Salud
Subdirector de Epidemiología

SPAGNA

Galicia
SANTIAGO DE COMPOSTELA

RERGA: Registry for rare diseases in Galicia (Spain)
Servicio Gallego de Salud
Servicio de Análisis y Evaluación Asistencial

SPAGNA

Madrid
MADRID

SIERMA: Information system on rare diseases in Madrid (Spain)
Comunidad de Madrid. Subdirección de Promoción y Prevención de la Salud
Subdirección de Promoción y Prevención de la Salud

SPAGNA

Madrid
MADRID

ReeR: Spanish National Registry of Rare Diseases
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

SPAGNA

Murcia
MURCIA

SIERrm: Information System on rare diseases in the Region of Murcia (Spain)
Región de Murcia. Consejería de Sanidad y Política Social
Servicio de Planificación y Financiación Sanitaria

SPAGNA

Navarra
PAMPLONA

Population registry of rare diseases of Navarra (Spain)
Instituto de Salud Pública y Laboral de Navarra
Sección de Epidemiología de Enfermedades No Transmisibles

AUSTRIA

STEIERMARK
GRAZ

Styrian registry of congenital anomalies - contributes to the EUROCAT network
Medizinische Universität Graz
Forschungsverein zur Registrierung steirischer Geburtsfehlbildungen

BELGIO

ANTWERPEN
ANTWERPEN

Antwerpen registry of congenital anomalies - contributes to the EUROCAT network
Provinciaal Instituut voor Hygiëne (PIH)- Antwerpen
EUROCAT Belgium_Antwerpen

BELGIO

HAINAUT
GOSSELIES

Hainaut and Namur registry of congenital anomalies - contributes to the EUROCAT network
Institut de Pathologie et de Génétique
Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)

DANIMARCA

Hovedstaden
COPENHAGEN

Nordic Database for Rare Diseases
Rigshospitalet
Department of Clinical Genetics and Paediatrics

DANIMARCA

Syddanmark
ODENSE

Funen county registry of congenital anomalies - contributes to the EUROCAT network
University of Southern Denmark
Epidemiology department

FINLANDIA

Finland
HELSINKI

Register of Congenital Malformations
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

French registry of Kabuki syndrome
Institution: Information not provided - FR

FRANCIA

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Auvergne registry of congenital anomalies - contributes to the EUROCAT network
CHU de Clermont-Ferrand - Hôpital d'Estaing
Service de génétique médicale

FRANCIA

AUVERGNE-RHONE-ALPES
LYON

Rhône-Alpes registry of congenital anomalies - contributes to the EUROCAT network
Registre des Malformations en Rhône Alpes
Registre des Malformations en Rhône Alpes REMERA

FRANCIA

BRETAGNE
RENNES

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Finanziato da un ente associato a IRDiRCRaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
Hôpital Bicêtre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabète de l'Enfant

FRANCIA

ILE-DE-FRANCE
PARIS

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCRaDiCo-IDMet: National and European cohort on Imprinting Disorders and their metabolic consequences
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service Explorations fonctionnelles Endocriniennes

FRANCIA

OUTRE-MER
FORT DE FRANCE

French West Indies registry of congenital anomalies - contributes to the EUROCAT network
CHU de Martinique - Maison de la Femme, de la Mère et de l'Enfant
Centre Pluridisciplinaire de Diagnostic Prénatal (CPDP)

FRANCIA

OUTRE-MER
SAINT-PIERRE

La Réunion Fench Island registry of congenital anomalies - contributes to the EUROCAT network
CHU de la Réunion - GH Sud Réunion - Saint-Pierre
Service de Génétique Médicale

GERMANIA

Bayern
MÜNCHEN

MD-NET: Muscle Tissue Culture Collection (MTCC) (EuroBioBank partner)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANIA

Rheinland-Pfalz
MAINZ

Mainz registry of congenital anomalies - contributes to the EUROCAT network
Universitätsmedizin Mainz
Geburtenregister Mainzer Modell

GERMANIA

Sachsen-Anhalt
MAGDEBURG

Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

IRLANDA

County Cork
CORK

IRLANDA

County Dublin
DUBLIN

Dublin registry of congenital anomalies - contributes to the EUROCAT network
Dr. Steeven's Hospital
HSE Registry of Congenital Anomalies (East)

IRLANDA

County Dublin
DUBLIN

National Cleft Database - contributes to EUROCAT
St James's Hospital
Craniofacial Orthodontic Service

IRLANDA

County Kilkenny
KILKENNY

South East of Ireland registry of congenital anomalies - part of BINOCAR and EUROCAT network
Health Service Executive South SE
South East of Ireland registry of congenital anomalies

ITALIA

CAMPANIA
BENEVENTO

Registro Campano difetti congeniti- afferisce al network EUROCAT
A.O.R.N. "Gaetano Rummo"
U.O.C. di Genetica Medica

ITALIA

LIGURIA
GENOVA

Galliera Genetic Bank
Ospedali Galliera
Dipartimento di Scienze genetiche, Perinatali e Ginecologiche

ITALIA

PUGLIA
SAN GIOVANNI ROTONDO

Biobanca genetica di pazienti con Sindrome di Williams-Beuren ed altri disordini genomici
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica

ITALIA

SICILIA
CATANIA

ISMAC: Registro siciliano di anomalie congenite - afferisce al network EUROCAT
ASMAC
Associazione per la Prevenzione Sociale e per il Trattamento delle Malformazioni Congenite

ITALIA

TOSCANA
PISA

Registro Toscano Difetti Congeniti
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Unità di Ricerca Epidemiologia Ambientale e Registri di Patologia

ITALIA

VENETO
PADOVA

Registro delle anomalie congenite in tutta l'area del nord-est Italia - afferisce al network EUROCAT
Azienda Ospedaliera di Padova
U.O.C. Genetica Clinica ed Epidemiologica

MALTA

MALTA
G'MANGIA

MALTA CONGENITAL ANOMALIES REGISTRY (MCAR) - it contributes to EUROCAT
Ministry for Health
Directorate of Health Information and Research

PAESI BASSI

Gelderland
NIJMEGEN

AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Kinderurologie

PAESI BASSI

Gelderland
NIJMEGEN

AGORA: biobank (DNA) for congenital anomalies and childhood cancer
Radboudumc - Radboud universitair medisch centrum
Afdeling Health Evidence

PAESI BASSI

Groningen
GRONINGEN

EUROCAT Northern Netherlands - contributes to the international EUROCAT network
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica

PAESI BASSI

Zuid-Holland
ROTTERDAM

ENCORE Biobank for Neurodevelopmental Disorders (blood/saliva/skin biopsies)
Erasmus MC - Erasmus Medisch Centrum
Afdeling Neurowetenschappen

POLONIA

Poznan
POZNAN

PRCM: Polish registry of congenital malformations - contributes to the EUROCAT network
Uniwersytet Medyczny im. Karola Marcinkowskiego w Poznaniu
Zaklad Genetyki Medycznej

PORTOGALLO

SUL
LISBOA

RENAC - Portuguese registry of congenital anomalies (contributes to the EUROCAT network)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Epidemiologia

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

European Prader-Willi syndrome database
Developmental Psychiatry - University of Cambridge
Learning Disabilities Research Group

SPAGNA

Castilla - León
SALAMANCA

National DNA Bank: Rare diseases sample collection
Centro de Investigación del Cáncer (USAL-CSIC)
Banco Nacional de ADN

SPAGNA

País Vasco
VITORIA-GASTEIZ

RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes to the EUROCAT network
Gobierno Vasco - Departamento de Sanidad y Consumo
Gobierno Vasco. Departamento de Salud

SVIZZERA

Suisse Alémanique
BASEL

SACHER: Swiss Adult Congenital HEart disease Registry
Universitätsspital Basel
Cardiology Department

SVIZZERA

Suisse Romande
LAUSANNE

EUROCAT VAUD Switzerland - Registry of congenital malformations of canton Vaud
Centre Hospitalier Universitaire Vaudois CHUV
Département Femme-Mère-Enfant - Maternité

FRANCIA

ILE-DE-FRANCE
PARIS

Motor Function Measure database (Neuromuscular Diseases)
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire

GERMANIA

Bayern
MÜNCHEN

mitoREGISTRY: Registry for patients with mitochondrial diseases - subproject of mitoNET
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANIA

Bayern
MÜNCHEN

MitoP2: Mitochondrial Proteome Database for mitochondria-related genes, proteins and diseases
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANIA

Bayern
MÜNCHEN

mitoSAMPLE: Biobank for mitochondrial diseases - subproject of mitoNET
Institut für Humangenetik der TU München
Institut für Humangenetik

ITALIA

CAMPANIA
NAPOLI

Biobanca per la ricerca e diagnosi sulle patologie neuromuscolari (NHMGB) (EuroBioBank partner)
AOU Università degli Studi della Campania "Luigi Vanvitelli" - Centro storico
Servizio di Cardiomiologia e Genetica Medica

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCRegistro Telethon-UILDM per le CMD (Distrofie Muscolari Congenite) - afferisce al network europeo Treat-NMD
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
U.O.C. Neuropsichiatria Infantile

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCMITOCON: Registro nazionale dei malati mitocondriali
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Unità di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina Molecolare

ITALIA

LOMBARDIA
MILANO

Banca di DNA linee cellulari e tessuto muscolare cardiaco e nervoso (EuroBioBank partner)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
U.O. Malattie Neuromuscolari

ITALIA

LOMBARDIA
MILANO

Biobanca di DNA di pazienti affetti da disordini del movimento (EuroBioBank partner)
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

ITALIA

LOMBARDIA
MILANO

Biobanca di DNA e linee cellulari dei disturbi del movimento in età pediatrica
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

ITALIA

TOSCANA
PISA

Finanziato da un ente associato a IRDiRCMITOCON: Registro nazionale dei malati mitocondriali
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Laboratorio di Neurobiologia Clinica e Neurochimica

PAESI BASSI

Limburg
MAASTRICHT

Biobank Myotonic Dystrophy type 1 (DNA, serum, fibroblasts and pericytes)
AZM - Academisch Ziekenhuis Maastricht
Afdeling Neurologie

PAESI BASSI

Limburg
MAASTRICHT

Biobank Myotonic Dystrophy type 1 (DNA, serum, fibroblasts and pericytes)
AZM - Academisch Ziekenhuis Maastricht
Biobank Klinische Genetica Maastricht

PAESI BASSI

Noord-Holland
AMSTERDAM

Biobank Lysosomal Storage Diseases (plasma/serum/peripheral blood cells/fibroblasts/urine)
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten

POLONIA

Warszawa
WARSAW

Polish Registry of Patients with Neuromuscular Diseases contributes to the TREAT-NMD network
Warszawski Uniwersytet Medyczny - Medical University of Warsaw
Klinika Neurologii - Department of Neurology

REGNO UNITO; GRAN BRETAGNA

Tyne & Wear
NEWCASTLE UPON TYNE

UK Myotonic dystrophy type I patient registry (part of the TREAT-NMD network)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

SPAGNA

Cataluña
BARCELONA

NMD-ES: Congenital Myasthenic Syndrome Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SPAGNA

Cataluña
BARCELONA

NMD-ES: Mitochondrial Diseases Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SPAGNA

Cataluña
ESPLUGUES DE LLOBREGAT

NMD-ES: Mitochondrial Diseases Registry
Hospital Sant Joan de Déu Barcelona
Unidad de Enfermedades Metabólicas Congénitas

STATI UNITI

California
IRVINE

MITOMAP: A human mitochondrial genome database. A compendium of polymorphisms and mutations of the human mitochondrial DNA
University of California
Center for molecular and mitochondrial medicine & genetics

STATI UNITI

Georgia
ATLANTA

CMDIR: congenital muscular dystrophy international registry
Emory University
Woodruff Health Sciences Center

UNGHERIA

Dél-Dunántúl
PECS

Mitochondrial DNA disorders biobank
Clinical Center - University of Pécs
Department of Medical Genetics

FRANCIA

BRETAGNE
RENNES

French registry of Iron overload genetic rare diseases, non-related to the HFE gene
CHU de Rennes - Hôpital Pontchaillou
Service des maladies du foie

FRANCIA

BRETAGNE
RENNES

French cohort of rhombencephalosynapsis
CHU de Rennes - Hôpital Sud
Service de génétique clinique

FRANCIA

BRETAGNE
RENNES

French biological collection of rhombencephalosynapsis
CHU de Rennes - Hôpital Sud
Service de génétique clinique

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCRaDiCo-MPS: National cohort on Mucopolysaccharidosis in the era of specific therapeutics
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service de Neuropédiatrie - Unité de neuropédiatrie et pathologie du développement

GERMANIA

Nordrhein-Westfalen
MÜNSTER

GERMANIA

Rheinland-Pfalz
MAINZ

German mucopolysaccharidosis patient registry
Universitätsmedizin Mainz
Villa Metabolica - Schwerpunktbereich angeborene Stoffwechselerkrankungen

PORTOGALLO

NORTE
PORTO

MitoBreak: The mitochondrial DNA breakpoints database.
CIIMAR - Interdisciplinary Centre of Marine and Environmental Research

REGNO UNITO; GRAN BRETAGNA

Buckinghamshire
AMERSHAM

UK mucopolysaccharidosis registry
MPS House
The Society for Mucopolysaccharide Diseases

SVEZIA

Region Skåne
LUND

TAZbase: Mutation registry for Barth syndrome
Lund University
Department of Experimental Medical Science

AUSTRALIA

Western Australia
MURDOCH

Finanziato da un ente associato a IRDiRCGaucher disease registry model
Murdoch University
Centre for Comparative Genomics (CCG)

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

EUNEFRON: registry of the European network for the study of orphan nephropathies
Cliniques universitaires Saint-Luc - UCLouvain
Laboratory of Nephrology

BULGARIA

 South Central region
PLOVDIV

National registry of patients with Gaucher disease - BG
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs

BULGARIA

 South Central region
PLOVDIV

National registry of patients with mucopolysaccharidosis type II (MPS2) - BG
BAPES - Bulgarian Association for Promotion of Education and Science
Information Centre for Rare Diseases and Orphan Drugs

FRANCIA

ILE-DE-FRANCE
CLICHY

French certified registry of patients affected by Gaucher disease
CHU Paris Nord-Val de Seine - Hôpital Beaujon
Service de médecine interne

FRANCIA

ILE-DE-FRANCE
PARIS

FROG: FRench Observatory on Gaucher disease
Actelion Pharmaceuticals France SAS

FRANCIA

ILE-DE-FRANCE
PARIS

French certified registry of glycogen storage disease type 2
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire

FRANCIA

OCCITANIE
MONTPELLIER

UMD FBN2 (fibrillin 2) mutations database
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

GERMANIA

Baden-Württemberg
TÜBINGEN

Niemann-Pick Type C Disease Gene Variation Database
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANIA

Hamburg
HAMBURG

NCL-Registry: International neuronal ceroid lipofuscinoses patient registry
UKE - Universitätsklinikum Hamburg-Eppendorf
Arbeitsgruppe Degenerative Gehirnkrankheiten

GERMANIA

Hamburg
HAMBURG

Finanziato da un ente associato a IRDiRCMucopolysaccharidosis type 1 (MPS I) Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANIA

Hamburg
HAMBURG

Finanziato da un ente associato a IRDiRCInternational Collaborative Gaucher Group (ICGG) Gaucher Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANIA

Hamburg
HAMBURG

Finanziato da un ente associato a IRDiRCFabry Disease Registry -DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANIA

Hamburg
HAMBURG

Finanziato da un ente associato a IRDiRCPompe Disease Registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANIA

Hamburg
HAMBURG

Hunter Outcome Survey (HOS): patient registry - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANIA

Hessen
GIEßEN

'Mutation Database Retina International: Centrosomal Protein; 290 kDa (CEP290)'
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

GERMANIA

Nordrhein-Westfalen
MÜNSTER

Nephronophthisis registry for patients in germany, austria and switzerland
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche

GERMANIA

Nordrhein-Westfalen
MÜNSTER

Nephronophthisis registry for patients in germany, austria and switzerland
Universitätsklinikum Münster
Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie

IRLANDA

County Dublin
DUBLIN

Hunter Outcome Survey (HOS): patient registry
Children's University Hospital
National Centre for Inherited Metabolic Disorders

ITALIA

TOSCANA
FIRENZE

Registro della Cardiomiopatia Ipertrofica da malattia di Anderson-Fabry
AOU Careggi
Dipartimento Cuore e Vasi - Cardiologia generale 1

ITALIA

TOSCANA
FIRENZE

Biogene- Biobanca di materiale biologico da pazienti affetti da malattie rare genetiche
Azienda Ospedaliero Universitaria Careggi
S.O.D. Diagnostica Genetica

NORVEGIA

Nord-Norge
TROMSØ

HUE-MAN patient registry on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics

NORVEGIA

Nord-Norge
TROMSØ

HUE-MAN mutation registry on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics

NORVEGIA

Nord-Norge
TROMSØ

HUE-MAN biobank on alpha mannosidosis
UNN - Universitetssykehuset Nord-Norge
Department of medical genetics

PAESI BASSI

Noord-Holland
AMSTERDAM

Dutch patient registry for Niemann-Pick Disease Type C
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten

PAESI BASSI

Noord-Holland
AMSTERDAM

Dutch patient registry for Fabry disease
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten

PAESI BASSI

Noord-Holland
AMSTERDAM

Dutch patient registry for Niemann-Pick Disease Type B
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten

PAESI BASSI

Noord-Holland
AMSTERDAM

Dutch patient registry for Gaucher disease
Amsterdam UMC, locatie AMC
Afdeling Erfelijke Stofwisselingsziekten

PAESI BASSI

Noord-Holland
NAARDEN

The intenational Pompe registry
Genzyme Europe B.V.

PAESI BASSI

Noord-Holland
NAARDEN

The international Fabry registry
Genzyme Europe B.V.

PAESI BASSI

Noord-Holland
NAARDEN

The international Mps I registry
Genzyme Europe B.V.

PORTOGALLO

NORTE
PORTO

Portuguese Fabry patient registry - contributing to the international Fabry registry
Centro Hospitalar de S. João, EPE
Departamento de Genética

REGNO UNITO; GRAN BRETAGNA

Greater London
LONDON

Batten Disease Neuronal Ceroid Lipofuscinosis (NCL) Patient Registry
UCL University College London
MRC Laboratory for Molecular Cell Biology

REGNO UNITO; GRAN BRETAGNA

Greater Manchester
MANCHESTER

Registry for Patients with Niemann-Pick Type C Disease
St Mary's Hospital
Manchester Cente for Genomic Medicine

REGNO UNITO; GRAN BRETAGNA

West Midlands
BIRMINGHAM

Finanziato da un ente associato a IRDiRCInternational Niemann-Pick Disease Registry
Queen Elizabeth Hospital
Inherited Metabolic Disorders

SPAGNA

Aragón
ZARAGOZA

REEG: Spanish Gaucher's disease registry
Fundación Española para el estudio y terapéutica de la enfermedad de Gaucher

SPAGNA

Cataluña
BARCELONA

NMD-ES: Pompe Disease Registry
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

STATI UNITI

Arizona
TUCSON

International Morquio A registry
The Carol Ann Foundation & The International Morquio Organization

STATI UNITI

Massachusetts
CAMBRIDGE

FOS : Fabry Outcome Survey
Shire Human Genetics Therapies, Inc.

STATI UNITI

Massachusetts
CAMBRIDGE

HOS : Hunter Outcome Survey
Shire Human Genetics Therapies, Inc.

SVIZZERA

Suisse Alémanique
BERN

Finanziato da un ente associato a IRDiRCSwiss Pompe Registry
Inselspital Universitätsspital
Centre for Neuromuscular Diseases

GERMANIA

Hessen
GIEßEN

Mutation Database Retina International: Palmitoyl-Protein Thioesterase Gene (PPT CLN1) Gene
Augenklinik des UKGM am Standort Gießen
Labor für molekulare Ophthalmologie - Klinik und Poliklinik für Augenheilkunde

PAESI BASSI

Noord-Holland
NAARDEN

Network di registri and biobanche

SPAGNA

Madrid
MADRID

SpainRDR: Spanish Rare Disease Registries Research Network (patient registries)
  • ISCIII - Instituto de Salud Carlos III
  • Instituto de Investigación de Enfermedades Raras
  • REGNO UNITO; GRAN BRETAGNA

    Antrim and Newtownabbey
    NEWTOWNABBEY