Associated Papers
Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease.
Germain DP et al.
Biomedicines, 2024
Membranous nephropathy without vacuolated podocytes in Fabry disease treated with agalsidase-β and carbamazepine: A case report.
Kanai T et al.
Medicine, 2022
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
32843101 (PubMed )
Supplement: 13023_2020_1494_MOESM5_ESM.xlsx › Sheet1
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 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
30497360 (PubMed )
Supplement: 12859_2018_2416_MOESM1_ESM.xlsx › ST1
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
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Classic
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP et al.
The New England Journal of Medicine, 2016
27509102 (PubMed )
Supplement: nejmoa1510198_protocol.pdf
Surges in proteinuria are associated with plasma GL-3 elevations in a young patient with classic Fabry disease.
Kanai T et al.
European Journal of Pediatrics, 2016
Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria.
Tøndel C et al.
Nephron, 2015
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Foot process effacement with normal urinalysis in classic fabry disease.
Kanai T et al.
Jimd Reports, 2011
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
20629180 (PubMed )
Supplement: supplement_1.pdf
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Rodríguez-Marí A et al.
Human Mutation, 2003
Spectrum of mutations in fucosidosis.
Willems PJ et al.
European Journal of Human Genetics : Ejhg, 1999
Fabry nephropathy. Role of nephrologist and clinical variables associated with the diagnosis.
Jaurretche S et al.
Nefrologia, 0
Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.
Jaurretche SPA et al.
Indian Journal of Nephrology, 0
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