Associated Papers
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.
Rossi F et al.
High Blood Pressure & Cardiovascular Prevention : the Official Journal of the Italian Society of Hypertension, 2021
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
Nampoothiri S et al.
Jimd Reports, 2020
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
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
p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease.
Ozelsancak R et al.
The American Journal of Case Reports, 2016
Intrafamilial phenotypic variability in four families with Anderson-Fabry disease.
Rigoldi M et al.
Clinical Genetics, 2014
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.
Andreotti G et al.
Orphanet Journal of Rare Diseases, 2010
Functional studies of new GLA gene mutations leading to conformational Fabry disease.
Filoni C et al.
Biochimica Et Biophysica Acta, 2010
New mutation in female patient with renal variant of Fabry disease and HIV.
Solis MA et al.
Journal of Nephrology, 0
Genetic and phenotypic profile of Fabry disease in the population of Vale do Paraiba and Eastern São Paulo.
Paz OTD et al.
Jornal Brasileiro De Nefrologia, 0