Associated Papers
Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy.
Laffer B et al.
Frontiers in Immunology, 2024
Assessment and impact of dose escalation on anti-drug antibodies in Fabry disease.
Lenders M et al.
Frontiers in Immunology, 2022
Endothelial Dysfunction in Fabry Disease Is Related to Glycocalyx Degradation.
Pollmann S et al.
Frontiers in Immunology, 2021
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Sawada T et al.
Molecular Genetics & Genomic Medicine, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Lukas J et al.
International Journal of Molecular Sciences, 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
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report.
McConnell EJ et al.
European Heart Journal. Case Reports, 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
Simple and efficient screening of patients with Fabry disease with high resolution melting.
Pasqualim G et al.
Clinical Biochemistry, 2018
Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina.
Cabrera G et al.
Molecular Genetics and Metabolism Reports, 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
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Lukas J et al.
Human Mutation, 2016
Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease.
Goker-Alpan O et al.
Jimd Reports, 2016
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
Fabry disease: a new approach for the screening of females in high-risk groups.
Pasqualim G et al.
Clinical Biochemistry, 2014
Frequency of de novo mutations in Japanese patients with Fabry disease.
Kobayashi M et al.
Molecular Genetics and Metabolism Reports, 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
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
Benjamin ER et al.
Journal of Inherited Metabolic Disease, 2009
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
Germain DP
Journal De La Societe De Biologie, 2002
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Eng CM et al.
Molecular Medicine (cambridge, Mass.), 1997
Urinary Myeloid Bodies as a Biomarker for Early Diagnosis and Monitoring of Enzyme Replacement Therapy in Fabry Disease.
Yang J et al.
Kidney Diseases (basel, Switzerland), 0