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Article

[Splicing abnormalities caused by a novel mutation in the PHKA2 gene in children with glycogen storage disease type IX].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology - 20 Apr 2023

Zhang Z H, Zheng B X, Zhuo Y J, Jin Y, Liu Z F, Zheng Y C

Abstract excerpt

Objective: Glycogen storage disease type IX (GSD-IX) is a rare primary glucose metabolism abnormality caused by phosphorylase kinase deficiency and a series of pathogenic gene mutations. The clinical characteristics, gene analysis, and functional verification of a mutation in a child with hepatomegaly are summarized here to clarify the pathogenic cause of the disease. Methods: The clinical data of a child with...

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Identifiers

PMID: 37248983
DOI: 10.3760/cma.j.cn501113-20220120-00034
PMCID: PMC12814145

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