Associated Papers
Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.
Guo W et al.
Journal of Advanced Research, 2026
Infrared spectroscopy as a new approach for early fabry disease screening: a pilot study.
Barretto CT et al.
Orphanet Journal of Rare Diseases, 2024
8th Update on Fabry Disease: Biomarkers, Progression and Treatment Opportunities in 2024.
Unknown Author
Nephron, 2024
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P et al.
Orphanet Journal of Rare Diseases, 2020
Adaptive pathway development for Fabry disease: a clinical approach.
Schuller Y et al.
Drug Discovery Today, 2018
Simple and efficient screening of patients with Fabry disease with high resolution melting.
Pasqualim G et al.
Clinical Biochemistry, 2018
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.
van der Tol L et al.
Journal of Medical Genetics, 2014
Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients.
de Alencar DO et al.
Molecular Genetics and Metabolism Reports, 2014
New mutations in the GLA gene in Brazilian families with Fabry disease.
Turaça LT et al.
Journal of Human Genetics, 2012
Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy.
Biancini GB et al.
Biochimica Et Biophysica Acta, 2012
Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.
Saito S et al.
Journal of Human Genetics, 2011
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.
Pinto LL et al.
Orphanet Journal of Rare Diseases, 2010
Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.
Thofehrn S et al.
Renal Failure, 2009
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
Shin SH et al.
Pharmacogenetics and Genomics, 2008
Genomic analysis of Brazilian patients with Fabry disease.
Pereira FS et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2007
Screening for pharmacological chaperones in Fabry disease.
Shin SH et al.
Biochemical and Biophysical Research Communications, 2007
Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease.
Jardim LB et al.
Journal of Inherited Metabolic Disease, 2006
CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy.
Jardim L et al.
Journal of Inherited Metabolic Disease, 2004
Fabry disease: enzyme replacement therapy.
Bongiorno MR et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2003
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
Germain DP
Journal De La Societe De Biologie, 2002
Nonsense mutation in exon 2 of the alpha-galactosidase A gene in a patient with Fabry disease.
Manni E et al.
Contributions to Nephrology, 2001
Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG).
Ashton-Prolla P et al.
American Journal of Medical Genetics, 1999
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.
Neerman-Arbez M et al.
Blood, 1999