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Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.

Molecular genetics & genomic medicine - 1 Oct 2020

Liang Yan, Du Caiqi, Wei Hong, Zhang Cai, Zhang Min, Hu Minghui, Fang Feng, Luo Xiaoping

Abstract excerpt

BACKGROUND: Glycogen storage disease (GSD) is a relatively rare inborn metabolic disorder, our study aims to investigate the genotypic and clinical feature of hepatic GSDs in China. METHODS: The clinical and genotypic data of 49 patients with hepatic GSDs were collected retrospectively and analyzed. RESULTS: After gene sequencing, 49 patients were diagnosed as GSDs, including GSD Ia (24 cases), GSD IIIa (11...

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Genetic Testing
Glucose-6-Phosphatase
Glycogen Debranching Enzyme System
Glycogen Storage Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Monosaccharide Transport Proteins

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PMID: 32772503
DOI: 10.1002/mgg3.1444
PMCID: PMC7549605

Genes

AGL
PYGL
SLC37A4

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