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Article

Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Mar 2022

Ahmed Sibtain, Akbar Fizza, Ali Amyna Jaffar, Afroze Bushra

Abstract excerpt

OBJECTIVES: Evaluation of clinical, biochemical and molecular analysis of Pakistani patients with hepatic GSDs. METHODS: Medical charts, biochemical, histopathological and molecular results of patients with hepatic GSD were reviewed. RESULTS: Out of 55 GSD patients, 41 (74.5%) were males and 14 (25.5%) were females with consanguinity in 50 (91%) patients. The median age of initial symptoms, clinic diagnosis and...

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PMID: 34989216
DOI: 10.1515/jpem-2021-0575

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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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