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Article

Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.

European journal of medical genetics - 1 Jun 2020

Kim Tae Hyeong, Kim Kwang Yeon, Kim Man Jin, Seong Moon-Woo, Park Sung Sup, Moon Jin Soo, Ko Jae Sung

Abstract excerpt

Glycogen storage disease type IX (GSD IX) is caused by a deficiency of hepatic phosphorylase kinase. The aim of this study was to clarify the clinical features, long term outcomes, and genetic analysis of GSD IX in Korea. A GSD gene panel was created and hybridization capture-based next-generation sequencing was performed. We investigated clinical laboratory data, results of molecular genetic analysis, liver...

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Identifiers

PMID: 32244026
DOI: 10.1016/j.ejmg.2020.103921

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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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