Associated Papers
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 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
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
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
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
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
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
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
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
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
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
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
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
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
Shin SH et al.
Pharmacogenetics and Genomics, 2008
Screening for pharmacological chaperones in Fabry disease.
Shin SH et al.
Biochemical and Biophysical Research Communications, 2007
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
Shabbeer J et al.
Molecular Genetics and Metabolism, 2002
Fabry disease: renal biopsy-proven cases from China.
Zhang SH et al.
Journal of Nephrology, 0