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Article

Glucocerebrosidase mutations in subjects with parkinsonism.

Molecular genetics and metabolism - 1 Jan 2004

Lwin Alicia, Orvisky Eduard, Goker-Alpan Ozlem, LaMarca Mary E, Sidransky Ellen

Abstract excerpt

Recent studies showing an association between glucocerebrosidase deficiency and parkinsonism in Gaucher disease prompted an examination of the glucocerebrosidase gene sequence (GBA) and enzyme activity in brain samples from 57 subjects carrying the diagnosis of Parkinson disease. Alterations in GBA were identified in 12 samples (21%) and were more frequent among the younger subjects. These included eight with...

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Identifiers

PMID: 14728994
DOI: 10.1016/j.ymgme.2003.11.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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