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Article

Phenotype, diagnosis, and treatment of Gaucher's disease.

Lancet (London, England) - 4 Oct 2008

Grabowski Gregory A

Abstract excerpt

Gaucher's disease continues to be a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. Analyses of several thousand affected individuals have broadened the range of the pan-ethnic disease variants, provided initial genotype and phenotype correlations, and established the effectiveness of enzyme therapy. Large numbers of affected individuals worldwide have provided...

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Identifiers

PMID: 19094956
DOI: 10.1016/S0140-6736(08)61522-6

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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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