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Article

A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature.

Clinica chimica acta; international journal of clinical chemistry - 1 Sept 2020

Nguyen Ngoc-Lan, Thi Bich Ngoc Can, Dung Vu Chi, Van Tung Nguyen, Hoang Nguyen Huy

Abstract excerpt

BACKGROUND: Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders. Overlapping features between liver GSDs are a major challenge in the clinical diagnosis of them. Genetic testing can provide an early and accurate diagnosis of patients suspected with GSDs. CASE PRESENTATION: In this study, we report two siblings born to healthy, non-consanguineous Vietnamese parents with...

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PMID: 32387637
DOI: 10.1016/j.cca.2020.05.010

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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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