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Article

[Neurological manifestations of type 1 Gaucher's disease: Is a revision of disease classification needed?].

Revue neurologique - 1 Nov 2006

Chérin P, Sedel F, Mignot C, Schupbach M, Gourfinkel-An I, Verny M, Baumann N

Abstract excerpt

INTRODUCTION: Gaucher's disease (GD), the most prevalent inherited lysosomal storage disorder, is caused by deficient glucocerebrosidase activity. The resulting accumulation of glucocerebrosides in lysosomes of macrophages leads to hepatosplenomegaly, anemia, thrombocytopenia, and various bone manifestations. Gaucher's disease is classified into 3 types based on the nature of its effects on the central nervous...

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Identifiers

PMID: 17086144
DOI: 10.1016/s0035-3787(06)75120-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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