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Article

Phosphorylase b kinase deficiency in man: a review.

Journal of inherited metabolic disease - 1 Jan 1990

Van den Berg I E, Berger R

Abstract excerpt

Phosphorylase b kinase is involved in the activation of glycogen phosphorylase and is thus involved in the breakdown of glycogen. The enzyme exists as several tissue specific isoenzymes of which the muscle enzyme (rabbit) has been most characterized. It is a multimeric protein composed of four subunits, alpha, beta, gamma and delta. The four subunits are coded on different chromosomes, the alpha, beta and gamma...

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PMID: 2122111
DOI: 10.1007/BF01799501

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Phosphorylase b kinase deficiency in man: a review.PMID 2122111Read ↗

[Phosphorylase b kinase deficiency].Semantic proximity Read ↗

Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.Semantic proximity Read ↗

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).Semantic proximity Read ↗

Muscle glycogenosis.Semantic proximity Read ↗

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of casesSemantic proximity Read ↗

Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).Semantic proximity Read ↗

Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure.Semantic proximity Read ↗

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.Semantic proximity Read ↗

A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.Semantic proximity Read ↗

Glycogen storage disease type IX: High variability in clinical phenotype.Semantic proximity Read ↗

[Different phenotypes of type IXb glycogenosis (phosphorylase-b-kinase deficiency) in adult- and early childhood].Semantic proximity Read ↗

Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).Semantic proximity Read ↗

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