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Article

Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.

Pediatric research - 1 Dec 2003

Burwinkel Barbara, Rootwelt Terje, Kvittingen Eli Anne, Chakraborty Pranesh K, Kilimann Manfred W

Abstract excerpt

Phosphorylase kinase-deficient liver glycogenosis manifests in infancy with hepatomegaly, growth retardation, and elevated plasma aminotransferases and lipids. It can be caused by mutations in three different genes of phosphorylase kinase subunits: PHKA2, PHKB, and PHKG2. It is usually a benign c...

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Source

Identifiers

PMID: 12930917
DOI: 10.1203/01.PDR.0000088069.09275.10

Genes

PHKG2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12930917-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.PMID 12930917Read ↗

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