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Article

Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.

Journal of genetics - 1 Mar 2017

Mahmoud Shekari Khaniani, Khorrami Aziz, Rafeey Mandana, Ghergherehchi Robabeh, Sima Mansoori Derakhshan

Abstract excerpt

Glycogen storage diseases (GSDs) are caused by abnormalities in enzymes that are involved in the regulation of gluconeogenesis and glycogenolysis. GSD I, an autosomal recessive metabolic disorder, is the most common GSD and has four subtypes. Here, we examined GSD Ia caused by the defective glucose-6-phosphatase catalytic (G6PC) gene. We investigated the frequency of GSD Ia and clarified its molecular aspect in...

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Identifiers

PMID: 28360385
DOI: 10.1007/s12041-016-0734-y

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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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