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Article

Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.

American journal of human genetics - 1 Jun 1999

Hendrickx J, Lee P, Keating J P, Carton D, Sardharwalla I B, Tuchman M, Baussan C, Willems P J

Abstract excerpt

X-linked liver glycogenosis (XLG) is probably the most frequent glycogen-storage disease. XLG can be divided into two subtypes: XLG I, with a deficiency in phosphorylase kinase (PHK) activity in peripheral blood cells and liver; and XLG II, with normal in vitro PHK activity in peripheral blood ce...

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Identifiers

PMID: 10330341
DOI: 10.1086/302399
PMCID: PMC1377897

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10330341-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.PMID 10330341Read ↗

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