Article
Genotype-Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype.
Molecular genetics & genomic medicine - 1 Dec 2024
Kimball Tamara N, Rivero-García Pamela, Argaiz Eduardo R, Gaytan-Arocha Jorge Eduardo, Uribe Norma Ofelia Uribe, Suárez Juan José Morales
Abstract excerpt
INTRODUCTION: Fabry disease (FD) is a rare lysosomal type 3 disorder with an X-linked inheritance pattern caused by pathogenic variants in the GLA gene. This study aimed to describe the genotype and phenotype of 52 Mexican patients with FD. METHODS: We included 12 patients with clinical and molecular diagnosis of FD treated at our institution and 40 FD Mexican patients already reported in the literature. RESULTS:...
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