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Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.

Clinical genetics - 1 Sept 2024

Yu Jindan, Ling Xiuxin, Chen Lingli, Fang Youhong, Lin Haihua, Lou Jingan, Ren Yanqi, Chen Jie

Abstract excerpt

Glycogen storage diseases (GSDs) are abnormally inherited glycogen metabolism mainly affecting the liver, muscles, and heart. Deficiency of proteins involved in glycogen metabolism caused by genetic mutations are responsible for different subtype of GSDs. However, there are still some challenges in diagnosing GSD. This study includes 39 suspected GSDs patients from unrelated families in China. Next-generation...

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Child, Preschool
China
East Asian People
Genetic Association Studies
Glycogen Storage Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Glycogen Storage Disease Type I

High-Throughput Nucleotide Sequencing

Source

Identifiers

PMID: 38576397
DOI: 10.1111/cge.14530

Genes

G6PC1
PYGL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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