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X-linked liver glycogenosis in a Taiwanese family: transmission from undiagnosed males.

Pediatrics and neonatology - 1 Oct 2009

Chen Szu-Ta, Chen Huey-Ling, Ni Yen-Hsuan, Chien Yin-Hsiu, Jeng Yung-Ming, Chang Mei-Hwei, Hwu Wuh-Liang

Abstract excerpt

X-linked liver glycogenosis (XLG), also known as glycogen storage disease type-lXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. It is caused by mutations in the PHKA2 gene that encodes the alpha-subunit of phosphorylase kinase (PHK). XLG can be divided into...

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PMID: 19856867
DOI: 10.1016/S1875-9572(09)60068-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19856867-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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