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Article

Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.

Pathologie-biologie - 1 Aug 2011

Cherif W, Rhouma F Ben, Chehida A Ben, Azzouz H, Monastiri K, Amri F, Chemli J, Kaabachi N, Abdelhak S, Tebib N, Dridi M-F Ben

Abstract excerpt

The glycogen storage disease type Ia (GSD Ia) is a rare inherited disorder, with autosomal recessive determinism. It is characterized by hepatomegaly, short stature and hypoglycemia with lactic acidemia. The confirmation of diagnosis is based on the enzymatic assay performed on liver biopsy. For Tunisians patients, this biochemical test is performed abroad. The aim of our study is the molecular characterization...

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Identifiers

PMID: 19896294
DOI: 10.1016/j.patbio.2009.05.004

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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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