Associated Papers
Genetic Management Algorithm in High-Risk Fabry Disease Cases; Especially in Female Indexes with Mutations.
Sezer O et al.
Endocrine, Metabolic & Immune Disorders Drug Targets, 2021
Oxidative stress biomarkers in Fabry disease: is there a room for them?
Simoncini C et al.
Journal of Neurology, 2020
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.
Ilinca A et al.
Stroke, 2020
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
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Whole genome and transcriptome sequencing of post-mortem cardiac tissues from sudden cardiac death victims identifies a gene regulatory variant in NEXN.
Andersen JD et al.
International Journal of Legal Medicine, 2019
Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations.
Oliveira JP et al.
The Application of Clinical Genetics, 2019
Low frequency of Fabry disease in patients with common heart disease.
Schiffmann R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Fabry disease in the Spanish population: observational study with detection of 77 patients.
Vieitez I et al.
Orphanet Journal of Rare Diseases, 2018
Simple and efficient screening of patients with Fabry disease with high resolution melting.
Pasqualim G et al.
Clinical Biochemistry, 2018
Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area.
Zizzo C et al.
Kidney & Blood Pressure Research, 2018
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
Ferreira S et al.
Molecular Genetics and Metabolism, 2015
The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type Specific.
Ferreira S et al.
Jimd Reports, 2015
Genetic screening of Fabry patients with EcoTILLING and HRM technology.
Bono C et al.
Bmc Research Notes, 2011
Abstracts of the International Workshop on Lysosomal Storage Diseases. November 7-8, 2008. Lisbon, Portugal.
Unknown Author
Expert Opinion on Therapeutic Targets, 2009
The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study.
Oliveira JP et al.
Journal of Inherited Metabolic Disease, 2008
Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.
Oliveira JP et al.
Journal of Inherited Metabolic Disease, 2008
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J et al.
Human Genomics, 2006
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
Froissart R et al.
Molecular Genetics and Metabolism, 2003
Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.
Fitzmaurice TF et al.
Journal of Inherited Metabolic Disease, 1997