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Article

[Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease].

Biomedica : revista del Instituto Nacional de Salud - 1 May 2018

Mantilla Carolina, Toro Mónica, Sepúlveda María Elsy, Insuasty Margarita, Di Filippo Diana, López Juan Álvaro, Baquero Carolina, Navas María Cristina, Arias Andrés Augusto

Abstract excerpt

INTRODUCTION: Type III glycogen storage disease (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme. The disease is characterized by fasting hypoglycemia, hepatomegaly and progressive myopathy. Molecular analyses of AGL have indicated heterogeneity depending on ethnic groups. The full spectrum of AGL mutations in Colombia remains...

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Identifiers

PMID: 29809327
DOI: 10.7705/biomedica.v38i0.3454

Genes

AGL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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