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Funded by an IRDiRC member =

Research projects

ITALY

LIGURIA
GENOVA

Molecular characterization of metabolic-genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Biomarker for Glycogen Storage Diseases (BioGlycogen): An International, multicentre, epidemiological protocol
Albrecht-Kossel-Institute for Neuroregeneration (AKos)
Albrecht-Kossel-Institut für Neurodegeneration

ITALY

SICILIA
MESSINA

Funded by an IRDiRC memberBuilding a nation-wide italian collaborative network for muscle glycogenoses: registry and natural history
A.O.U. Policlinico "G. Martino"
U.O.C. di Neurologia e Malattie Neuromuscolari

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - DE
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik Kinderheilkunde I - Nephrologisches Labor

NETHERLANDS

Gelderland
NIJMEGEN

Funded by an IRDiRC memberEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - NL
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie

NETHERLANDS

Utrecht
UTRECHT

Funded by an IRDiRC memberEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - NL
UMC Utrecht - Universitair Medisch Centrum Utrecht
Polikliniek Genetica

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANCE

HAUTS-DE-FRANCE
LILLE

ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

ITALY

LIGURIA
GENOVA

New technologies and new strategies for neonatal screening
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

SWEDEN

Stockholms läns landsting
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

UNITED KINGDOM

Oxfordshire
BEGBROKE

Multicentric Research projects