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Article

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.

Journal of inherited metabolic disease - 1 Sept 2016

Sentner Christiaan P, Hoogeveen Irene J, Weinstein David A, Santer René, Murphy Elaine, McKiernan Patrick J, Steuerwald Ulrike, Beauchamp Nicholas J, Taybert Joanna, Laforêt Pascal, Petit François M, Hubert Aurélie, Labrune Philippe, Smit G Peter A, Derks Terry G J

Abstract excerpt

Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. Patients with GSDIIIa show involvement of liver and cardiac/skeletal muscle, whereas GSDIIIb patients display only liver symptoms and signs. The International Study on Glycogen Storage Disease (ISGSDIII) is a descriptive...

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Identifiers

PMID: 27106217
DOI: 10.1007/s10545-016-9932-2
PMCID: PMC4987401

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AGL

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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