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Article

Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype.

The Israel Medical Association journal : IMAJ - 1 Nov 2002

Beutler Ernest, West Carol

Abstract excerpt

BACKGROUND: Gaucher disease results from the accumulation of glucosylceramide (glucocerebroside) in tissues of affected persons. Patients sharing the same genotype present with widely varying degrees of lipid storage and of clinical manifestations. OBJECTIVES: To determine whether variation in th...

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PMID: 12489486

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12489486-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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