Associated Papers
Fabry Disease and Its Different Phenotypes.
Antunes MO et al.
Arquivos Brasileiros De Cardiologia, 2025
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M et al.
American Journal of Medical Genetics. Part A, 2022
Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing.
Nowak A et al.
Scientific Reports, 2021
Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
Maruyama H et al.
Current Issues in Molecular Biology, 2021
Hypermobile Ehlers-Danlos-like syndrome in Fabry disease.
Barbey F et al.
Clinical Genetics, 2019
Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Maruyama H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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