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Article

[Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity].

Voprosy meditsinskoi khimii - 1 Jan 2000

Beĭer E M, Bukina T M, Tsvetkova I V

Abstract excerpt

A biochemical study of three patients with clinical symptoms of Gaucher disease was carried out. Two of them had a significant deficiency of beta-glucocerebrosidase activity (a primary enzyme defect) in leukocytes and an enormous increasing of chitotriosidase activity in blood plasma that confirm...

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PMID: 11204625

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11204625-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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