Article
The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG).
Journal of inherited metabolic disease - 1 Aug 2010
Chérin P, Rose C, de Roux-Serratrice C, Tardy D, Dobbelaere D, Grosbois B, Hachulla E, Jaussaud R, Javier R-M, Noël E, Clerson P, Hartmann A
Abstract excerpt
BACKGROUND: Gaucher disease (GD), the most prevalent inherited lysosomal storage disorder, is caused by deficient glucocerebrosidase activity. Type 1 GD (GD1), the most common variant, is classically considered non-neuronopathic. METHODS: We performed a national cross-sectional observational survey-the French Observatoire on Gaucher Disease (FROG)-in patients with GD1 between March 2005 and September 2006. The...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.