Associated Papers
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.
Effraimidis G et al.
Plos One, 2022
Ocular manifestations in a patient with de novo Fabry disease.
Lee YH et al.
Yeungnam University Journal of Medicine, 2018
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.
Cimmaruta C et al.
Bmc Bioinformatics, 2018
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
Choi JH et al.
Medicine, 2017
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Citro V et al.
International Journal of Molecular Sciences, 2016
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
Lee BH et al.
Journal of Human Genetics, 2010
Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.
Park JY et al.
Experimental & Molecular Medicine, 2009
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
Eng CM et al.
Human Molecular Genetics, 1994
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Eng CM et al.
Human Mutation, 1994
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
Eng CM et al.
American Journal of Human Genetics, 1993
Respiratory impairments in patients suffering from Fabry disease - A cross-sectional study.
Ahmed H et al.
Chronic Respiratory Disease, 0