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Article

Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Mar 2018

Quackenbush David, Devito Justin, Garibaldi Luigi, Buryk Melissa

Abstract excerpt

BACKGROUND: Glycogen storage diseases (GSDs) are a collection of disorders related to glycogen synthesis or degradation that classically present in infancy with hypoglycemia, failure to thrive and hepatomegaly; however, their phenotype can vary significantly. CASE PRESENTATION: We present the cases of two children, 5 years old and 3.5 years old, who were referred to endocrinology for short stature. They were...

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Identifiers

PMID: 29374762
DOI: 10.1515/jpem-2017-0209

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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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