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Article

Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.

Medicine - 1 Nov 2019

Zhu Qian, Wen Xiao-Yu, Zhang Ming-Yuan, Jin Qing-Long, Niu Jun-Qi

Abstract excerpt

INTRODUCTION: Glycogen storage disease (GSD) type IX, characterized by liver enlargement and elevated aminotransferase levels, is the most frequent type of GSD. The global incidence of GSD type IXa is only about 1/100,000 individuals. Case reports of GSD type IX are rare in China. We present the first case report of GSD type IXa in Northeast China caused by mutation of PHKA2. PATIENT CONCERNS: An 11-year-old boy...

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PMID: 31725618
DOI: 10.1097/MD.0000000000017775
PMCID: PMC6867740

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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