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Article

Molecular genetics of type 1 glycogen storage disease.

Molecular genetics and metabolism - 1 Jun 2001

Janecke A R, Mayatepek E, Utermann G

Abstract excerpt

Glycogen storage disease type 1 (GSD 1) comprises a group of autosomal recessive inherited metabolic disorders caused by deficiency of the microsomal multicomponent glucose-6-phosphatase system. Of the two known transmembrane proteins of the system, malfunction of the catalytic subunit (G6Pase) characterizes GSD 1a. GSD 1 non-a is characterized by defective microsomal glucose-6-phosphate or...

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Identifiers

PMID: 11386847
DOI: 10.1006/mgme.2001.3179

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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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