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Article

Clinical Characteristics and GBA Gene Mutation Analysis of Gaucher Disease Type I.

Clinical laboratory - 1 Apr 2023

Zhang Xiaofang, Wu Yiping, Wang Lihua, Wu Qiong, Liu Qian, Li Ruimin

Abstract excerpt

BACKGROUND: The aim was to investigate the clinical characteristics and GBA gene mutation analysis of Gaucher disease type I in children. METHODS: The clinical manifestations, GBA gene mutations, and review related literature of 3 children with Gaucher disease type I were retrospectively analyzed. RESULTS: Case 1: Clinical manifestations include epistaxis, pancytopenia, hepatosplenomegaly, and lymphadenopathy....

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Identifiers

PMID: 37057944
DOI: 10.7754/Clin.Lab.2022.220816

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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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