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
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease.
Najafian B et al.
Kidney International, 2022
Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.
Tsukimura T et al.
Molecular Genetics and Metabolism Reports, 2020
Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report.
Zhang R et al.
Renal Failure, 2020
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 in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
Nampoothiri S et al.
Jimd Reports, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations.
Nakagawa N et al.
Journal of Human Genetics, 2019
A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severity.
Meireles MR et al.
Human Mutation, 2019
Unexpectedly High Prevalence of Coronary Spastic Angina in Patients With Anderson-Fabry Disease.
Kitani Y et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2019
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 2018
Conjunctival lymphangiectasia associated with classic Fabry disease.
Sivley MD et al.
The British Journal of Ophthalmology, 2018
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb₃-related analogues in Fabry disease.
Boutin M et al.
Analytical Chemistry, 2014
Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease.
Mauer M et al.
Plos One, 2014
Spectrum of Lysosomal storage disorders at a medical genetics center in northern India.
Verma PK et al.
Indian Pediatrics, 2012
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
Germain DP et al.
Molecular Medicine (cambridge, Mass.), 2002
[Molecular genetics of Fabry disease].
Sakuraba H
Seikagaku. the Journal of Japanese Biochemical Society, 1989
Fabry disease: renal biopsy-proven cases from China.
Zhang SH et al.
Journal of Nephrology, 0