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Article

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.

Chinese medical journal - 20 Feb 2018

Liu Hua-Xu, Pu Chuan-Qiang, Shi Qiang, Zhang Yu-Tong, Ban Rui

Abstract excerpt

BACKGROUND: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim of this study was to report the clinicopathological and genetic characteristics of five Chinese patients with...

Topics

Adolescent
Adult
Female
Glycogen Storage Disease Type II
Humans
Male
Mutation
Young Adult
alpha-Glucosidases

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 29451150
DOI: 10.4103/0366-6999.225056
PMCID: PMC5830830

Genes

GAA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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