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Article

Clinical and genetic spectrum of GSD type 6 in Korea.

Orphanet journal of rare diseases - 1 Jun 2023

Hahn Jong Woo, Lee Heerah, Seong Moon Woo, Kang Gyeong Hoon, Moon Jin Soo, Ko Jae Sung

Abstract excerpt

BACKGROUND: Glycogen storage disease type VI (GSD VI) is a rare disease in which liver glycogen metabolism is impaired by mutations in the glycogen phosphorylase L (PYGL). This study aimed to examine the clinical features, genetic analyses, and long-term outcomes of patients with GSD VI in Korea. METHODS: From January 2002 to November 2022, we retrospectively reviewed patients diagnosed with GSD VI using a gene...

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Identifiers

PMID: 37264426
DOI: 10.1186/s13023-023-02750-1
PMCID: PMC10233917

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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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