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Article

[Analysis of clinical spectrum and genotype characteristics of 9 cases of Fabry disease].

Zhonghua nei ke za zhi - 1 Sept 2026

He Z J, Zhang Y Y, Chen L H, Zhang L Q, Wang Y, Shi S M, Zhou H

Abstract excerpt

Objective: To investigate the genetic characteristics and clinical phenotypes across different genotypes in patients with Fabry disease. Methods: Clinical data of 9 confirmed FD patients treated from June 2019 to December 2025 at the Affiliated Huai'an No.1 people's Hospital of Nanjing Medical University were retrospectively analyzed. The diagnostic criteria for FD included α-galactosidase A (α-GalA) activity,...

Read the complete abstract on PubMed

Topics

Humans
Fabry Disease
Male
Female
Genotype
alpha-Galactosidase
Adult

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Phenotype

Retrospective Studies

Middle Aged

Mutation

Pedigree

Source

Identifiers

PMID: 42733264
DOI: 10.3760/cma.j.cn112138-20260429-00258

Genes

GLA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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