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Refsum's disease: diagnosis, pathology and treatment (RDDPT)

Objectif

The pyramid acid storage disorders represent a diverse group of inherited neurological disorders with adult Refuse’s disease as the prototype. Although the age of onset and disease severity may differ, most patients show progressive neurological deteriorations and retentions pimentos culminating into blindness. It is the aim of this project to perform a detailed and comprehensive study on the diagnosis, incidence, pathology, variability of phenotypic presentation, and treatment of Refuse’s disease and related pyramid acid storage disorders. Bringing together complementary levels of expertise in the form of a multidisciplinary taskforce will do this. Rapid dissemination of information gained during the course of the project will be achieved through a publicly available website.

Appel à propositions

Data not available

Régime de financement

CSC - Cost-sharing contracts

Coordinateur

ACADEMISCH ZIEKENHUIS BIJ DE UNIVERSITEIT VAN AMSTERDAM
Contribution de l’UE
Aucune donnée
Adresse
9,Meibergdreef 9 Academisch Medisch Centrum FO-224
1100 DD AMSTERDAM
Pays-Bas

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Coût total
Aucune donnée

Participants (3)