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Onderzoeksprojecten

DUITSLAND

Mecklenburg-Vorpommern
ROSTOCK

Biomarker for Gaucher Disease (BioGaucher): An International, multicentre, epidemiological protocol
Albrecht-Kossel-Institute for Neuroregeneration (AKos)
Albrecht-Kossel-Institut für Neurodegeneration

ITALIË

FRIULI VENEZIA GIULIA
UDINE

Clinical history and long-term cost-effectiveness of enzyme replacement therapy for Gaucher disease in Italy
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Centro di Coordinamento Regionale per le Malattie Rare

ITALIË

LIGURIA
GENOVA

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

USA

Washington
ADDRESS: NOT PROVIDED - US

USA

Washington
ADDRESS: NOT PROVIDED - US

USA

Washington
ADDRESS: NOT PROVIDED - US

Gefinancierd door een IRDiRC-lidProgranulin: a novel gene in gaucher diseases
Institution: Information not provided - US

ZUID-KOREA

KOREA, REPUBLIC OF
SEOUL

PORTUGAL

NORTE
PORTO

The sorting and trafficking of lysosomal proteins through M6P independent pathways: molecular, biochemical and functional studies
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

USA

Washington
ADDRESS: NOT PROVIDED - US

Gefinancierd door een IRDiRC-lidNeuro-ophthalmic mechanisms of disease
Institution: Information not provided - US

PORTUGAL

NORTE
PORTO

Splicing therapeutics for patients affected by lisosomal storage disorders.
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

PORTUGAL

NORTE
PORTO

The crosstalk between lipid antigen presentation and the pathogenic mechanisms of Lysosomal Storage Diseases
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

CANADA

Ontario
OTTAWA

Gefinancierd door een IRDiRC-lidEmerging 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

Gefinancierd door een IRDiRC-lidEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANKRIJK

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

ITALIË

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

USA

Washington
ADDRESS: NOT PROVIDED - US

Gefinancierd door een IRDiRC-lidBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

USA

Washington
ADDRESS: NOT PROVIDED - US

ZWEDEN

Stockholms läns landsting
STOCKHOLM

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

ZWITSERLAND

Suisse Romande
LAUSANNE

Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont -
CMM - Centre des Maladies Moléculaires

FRANKRIJK

ILE-DE-FRANCE
PARIS

Gefinancierd door een IRDiRC-lidSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANKRIJK

PAYS DE LA LOIRE
NANTES

Gefinancierd door een IRDiRC-lidFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

ITALIË

CAMPANIA
NAPOLI

Gefinancierd door een IRDiRC-lidTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

JAPAN

JAPAN
TOKYO

Gefinancierd door een IRDiRC-lidFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

Multicentrische onderzoeksprojecten