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Article

[Clinical phenotype and genotype of Gaucher disease in 14 children].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2022

Sun X Y, Xue Y, Wang Y P, Huang J, Lin R F, Kang M Y, Fang Y J

Abstract excerpt

Objective: To analyze the clinical and genetical characteristics of children with Gaucher disease and to explore the relationship between genotype and phenotype. Methods: In this retrospective study, the clinical data of 14 children with Gaucher disease diagnosed in Children's Hospital of Nanjing Medical University from August 2016 to October 2021 were analyzed. Their general conditions, clinical manifestations,...

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Identifiers

PMID: 35658357
DOI: 10.3760/cma.j.cn112140-20220228-00159

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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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