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Article

[Genotype-phenotype analysis of Fabry disease caused by GLA gene variation in a pedigree].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 25 Mar 2024

Ge Z H, Lu Z H, Pan X D, Lai T T, Yang M J, Yang H Q, Zhang H B, Li G Y, Dai Z Q, Mao J H

Abstract excerpt

Objective: To investigate the clinical phenotype and genetic characteristics of patients with Fabry disease caused by a GLA variant, IVS4+919G>A. Methods: It was a prospective study. Fabry disease screening was conducted among high-risk population in Ninghai from October 2021 to August 2023. Those children with decreased α-galactosidase enzyme activity<2.40 μmol/(L·h) or elavated Lyso-GL-3 level>1.10 μg/L in...

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PMID: 38527505
DOI: 10.3760/cma.j.cn112140-20231007-00258

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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