Article
Gaucher disease.
Handbook of clinical neurology - 1 Jan 2013
Mignot Cyril, Gelot Antoinette, De Villemeur Thierry Billette
Abstract excerpt
Gaucher disease is an autosomal recessive condition due to glucocerebrosidase deficiency responsible for the lysosomal accumulation of glucosylceramide, a complex lipid derived from cell membranes, mainly in macrophages. It is due to mutations mostly in the GBA gene, although saposine C deficiency is due to mutations in the PSAP gene. It encompasses an extremely heterogeneous spectrum of clinical involvement from...
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