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Article

Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.

Molecular genetics and metabolism - 1 Nov 2020

Fernandes Samuela A, Cooper Gabrielle E, Gibson Rebecca Anne, Kishnani Priya S

Abstract excerpt

INTRODUCTION: Liver Glycogen Storage Disease Type IX (GSD IX) is one of the most common forms of GSD. It is caused by a deficiency in enzyme phosphorylase kinase (PhK), a complex, hetero-tetrameric enzyme comprised of four subunits - α, β, γ, and δ - each with tissue specific isoforms encoded by different genes. Until the recent availability of gene panels and exome sequencing, the diagnosis of liver GSD IX did...

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Identifiers

PMID: 33317799
DOI: 10.1016/j.ymgme.2020.10.004
PMCID: PMC7953588

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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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