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Novel variants in Turkish patients with glycogen storage disease.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Oct 2020

Çakar Nafiye Emel, Gezdirici Alper, Topuz Hanım Şeyma, Önal Hasan

Abstract excerpt

BACKGROUND: Glycogen storage diseases (GSD) are disorders of autosomal recessive carbohydrate metabolism, characterized by glycogen accumulation. The liver and muscle tissue are commonly affected but patients may present with different clinical manifestations. The presence of glycogen can be demonstrated in biopsies and definitive diagnosis can be made by enzymatic or molecular analysis. The aim of this study was...

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1,4-alpha-Glucan Branching Enzyme
Carbohydrate Metabolism
Glycogen Debranching Enzyme System
Glycogen Storage Disease
Glycogen Storage Disease Type I

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PMID: 32374048
DOI: 10.1111/ped.14286

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