Orphanet: Recherche par maladie / gène
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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

ESPAGNE

Aragón
ZARAGOZA

Financé par un membre IRDiRCEvaluation of the role of channels in inflammatory KCa3.1 complex induced Gaucher cells and development of bone complications in GD
Hospital Universitario Miguel Servet
Unidad de Investigación Traslacional - Instituto de Investigación Sanitaria Aragón

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

ROYAUME-UNI

Tyne & Wear
NEWCASTLE UPON TYNE

ESDN: European Skeletal Dysplasia Network (coordination)
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

Projets de recherche multicentriques