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Cerca un registro/una biobanca

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Finanziato da un ente associato a IRDiRC =

Registri and biobanche

STATI UNITI

Arizona
TUCSON

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

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCNational 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

Rheinland-Pfalz
MAINZ

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

REGNO UNITO; GRAN BRETAGNA

Buckinghamshire
AMERSHAM

UK mucopolysaccharidosis registry
MPS House
The Society for Mucopolysaccharide Diseases

PAESI BASSI

Noord-Holland
AMSTERDAM

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

AUSTRIA

TIROL
INNSBRUCK

Austrian registry for inborn errors of metabolism
Medizinische Universität Innsbruck
Pädiatrie I

FRANCIA

ILE-DE-FRANCE
PARIS

French National Registry for Rare Diseases (BNDMR)
AP-HP Campus Picpus - Département WIND (Web Innovation Données)
Banque Nationale de Données Maladies Rares (BNDMR)

GERMANIA

Baden-Württemberg
HEIDELBERG

Finanziato da un ente associato a IRDiRCUIMD: Unified European Registry for Inherited Metabolic Disorders
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

GERMANIA

Baden-Württemberg
REUTLINGEN

RAMEDIS : Rare Metabolic Diseases Database
Klinikum am Steinenberg
Klinik für Kinder- und Jugendmedizin

GERMANIA

Baden-Württemberg
REUTLINGEN

RAMEDIS : Rare Metabolic Diseases mutation Database
Klinikum am Steinenberg
Klinik für Kinder- und Jugendmedizin

PAESI BASSI

Utrecht
UTRECHT

DDRMD - Dutch Diagnosis Registration Metabolic Diseases
UMC Utrecht - Universitair Medisch Centrum Utrecht
Afdeling Metabole Ziekten

SPAGNA

Cataluńa
ESPLUGUES DE LLOBREGAT

Biobank of the Sant Joan de Déu Children's Hospital for Research (BHISJDI)
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Biobanco del Hospital Infantil Sant Joan de Déu para la investigación

AUSTRIA

TIROL
INNSBRUCK

Austrian Country Node of the Human Variome Project (HVP)
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

COREA DEL SUD

KOREA, REPUBLIC OF
SEOUL

Finanziato da un ente associato a IRDiRCKorean Mutation Database for Rare Diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

DANIMARCA

Sjćlland
COPENHAGEN

Mendelian cytogenetics network online database
The Panum Institute-University of Copenhagen
Department of Cellular and Molecular Medicine

ESTONIA

Tartu
TARTU

Biobank of the Estonian Genome Centre
Institute of Genomics of University of Tartu
The Estonian Genome Centre

ITALIA

LIGURIA
GENOVA

Biobanca di linee cellulari e di DNA da pazienti affetti da malattie genetiche
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALIA

LIGURIA
GENOVA

Finanziato da un ente associato a IRDiRCRete delle biobanche genetiche Telethon
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

MAROCCO

Rabat
RABAT

Moroccan National Genetic Database
Institut National d'Hygične
Département de génétique médicale

SPAGNA

Comunidad Valenciana
VALENCIA

CIBERER Biobank (Biobank of rare diseases)
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

SPAGNA

Comunidad Valenciana
VALENCIA

CIBERER Biobank (Biobank of rare diseases)
INCLIVA
Grupo de investigación en Fisiopatología celular y orgánica del estrés oxidativo

SPAGNA

Madrid
MADRID

BioNER: Biobank of the Institute of Rare Diseases Research/Institute of Health Carlos III
ISCIII - Instituto de Salud Carlos III
Instituto de Investigación de Enfermedades Raras

SPAGNA

País Vasco
BARAKALDO

Finanziato da un ente associato a IRDiRCBasque Biobank
BIOEF - Fundación Vasca de Innovación e Investigación Sanitarias
Biobanco Vasco

Network di registri and biobanche

ITALIA

LIGURIA
GENOVA

Network di Biobanche Genetiche di Telethon
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • Centro di diagnostica genetica e biochimica delle malattie metaboliche