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Funded by an IRDiRC member =

Research projects

GERMANY

Baden-Württemberg
HEIDELBERG

Bioenergetic and biochemical investigation of pathogenic mechanisms in methyl malonic aciduria
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

GERMANY

Baden-Württemberg
HEIDELBERG

Pathophysiology of Methylmalonic acidemia
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

SERBIA

Serbia
BELGRADE

Molecular basis of organic acidurias in Serbia: searching for new mutations
Institute of Molecular Genetics and Genetic Engineering
Laboratory for molecular hematology

SPAIN

Madrid
CANTOBLANCO

Molecular basis of organic acidurias in Serbia: searching for new mutations
Universidad Autónoma de Madrid. Facultad de Ciencias
Centro de Diagnóstico de Enfermedades Moleculares

CANADA

Québec
MONTRÉAL

Funded by an IRDiRC memberInborn errors of cobalamin and folate metabolism
Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill
Génétique médicale - Medical Genetics

SPAIN

Madrid
CANTOBLANCO

Proteomics and cellular studies on oxidative stress and apoptosis in inherited metabolic diseases due to defects on cobalamin metabolism
Universidad Autónoma de Madrid. Facultad de Ciencias
Centro de Diagnóstico de Enfermedades Moleculares

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

GERMANY

Niedersachsen
HANNOVER

Intrauterine development of energy metabolism
Medizinische Hochschule Hannover
Breich Neuropädiatrie / Stoffwechsel

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

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

Multicentric Research projects