Associated Papers
An unusual trilogy: a case of comorbid aHUS, Fabry disease, and hypertrophic cardiomyopathy.
Li Q et al.
Frontiers in Medicine, 2026
Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland.
Valtola K et al.
Esc Heart Failure, 2025
Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis.
Linares D et al.
Molecular Genetics and Metabolism, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis.
Lee CL et al.
International Journal of Medical Sciences, 2022
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
Delarosa-Rodríguez R et al.
Clinical Genetics, 2021
Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.
Lombardi S et al.
International Journal of Molecular Sciences, 2020
Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.
Tsukimura T et al.
Molecular Genetics and Metabolism Reports, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
Nampoothiri S et al.
Jimd Reports, 2020
Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.
Boutin M et al.
International Journal of Molecular Sciences, 2020
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Thomas CP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.
Najafian B et al.
Journal of the American Society of Nephrology : Jasn, 2020
Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.
Lombardi S et al.
Rna Biology, 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
Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature.
Lee TH et al.
European Journal of Neurology, 2019
Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study.
Weidemann F et al.
Molecular Genetics and Metabolism, 2019
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 2018
Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry disease.
Moura AP et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Simple and efficient screening of patients with Fabry disease with high resolution melting.
Pasqualim G et al.
Clinical Biochemistry, 2018
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
Lu YH et al.
Journal of Human Genetics, 2018
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2016
Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening.
Silva CA et al.
Nephron, 2016
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
Germain DP et al.
Journal of Medical Genetics, 2015
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.
Auray-Blais C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).
Liu HC et al.
Orphanet Journal of Rare Diseases, 2014
Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb₃-related analogues in Fabry disease.
Boutin M et al.
Analytical Chemistry, 2014
Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa.
Lin HY et al.
Journal of the Chinese Medical Association : Jcma, 2014
High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.
Lee SH et al.
Molecular Genetics and Metabolism, 2014
Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.
Niemann M et al.
Circulation. Cardiovascular Genetics, 2014
Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).
Liao HC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A).
Lin HY et al.
Bmj Open, 2013
The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.
Tai CL et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.
Auray-Blais C et al.
Molecular Genetics and Metabolism, 2008
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Ashton-Prolla P et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2000
[Molecular genetics of Fabry disease].
Sakuraba H
Seikagaku. the Journal of Japanese Biochemical Society, 1989