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Projets de recherche

AUTRICHE

SALZBURG
SALZBURG

Non Interventional Study of VPRIV® (Velaglucerase Alfa) Home Therapy in Patients With Gaucher's Disease - AT
Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
Universitätsklinik für Kinder- und Jugendheilkunde

AUTRICHE

VORARLBERG
BREGENZ

AUTRICHE

WIEN
WIEN

Non Interventional Study of VPRIV® (Velaglucerase Alfa) Home Therapy in Patients With Gaucher's Disease - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Endokrinologie und Stoffwechsel

AUTRICHE

WIEN
WIEN

Non Interventional Study of VPRIV® (Velaglucerase Alfa) Home Therapy in Patients With Gaucher's Disease - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Pädiatrische Pulmologie, Allergologie und Endokrinologie

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

ALLEMAGNE

Mecklenburg-Vorpommern
ROSTOCK

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

COREE, REPUBLIQUE DE

KOREA, REPUBLIC OF
SEOUL

ITALIE

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

ITALIE

LIGURIA
GENOVA

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

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

Financé par un membre IRDiRCEmerging 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

Financé par un membre IRDiRCEmerging 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: Technologie de Sélection Individualisée de Médicaments pour les patients orphelins
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

ITALIE

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

SUEDE

Stockholms läns landsting
STOCKHOLM

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

ITALIE

CAMPANIA
NAPOLI

Financé par un membre IRDiRCTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

ROYAUME-UNI

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

Projets de recherche multicentriques