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Article

Characterization of neuronopathic Gaucher disease among ethnic Poles.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2006

Tylki-Szymañska Anna, Keddache Mehdi, Grabowski Gregory A

Abstract excerpt

PURPOSE: Gaucher disease is a common lysosomal storage disease that results from inherited mutations in the gene (GBA) encoding acid beta-glucosidase (GCase). Here, the clinical and molecular findings of the subacute neuronopathic variant are delineated among ethnic Poles. METHODS: Longitudinal studies of visceral, bony, and central nervous system involvement are delineated clinically. Complete gene GBA...

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PMID: 16418594
DOI: 10.1097/01.gim.0000196443.42899.25

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