Associated Papers
A foundational atlas of autism protein interactions reveals molecular convergence.
Wang B et al.
Biorxiv : the Preprint Server for Biology, 2024
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
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Monda E et al.
Circulation. Genomic and Precision Medicine, 2023
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan.
Imasawa T et al.
Clinical and Experimental Nephrology, 2023
Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.
Dai X et al.
Orphanet Journal of Rare Diseases, 2022
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 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
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Liguori R et al.
Plos One, 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
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.
Vylet'al P et al.
Journal of Inherited Metabolic Disease, 2008
A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.
Merta M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2007
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Klebe S et al.
Annals of Neurology, 2005
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.
Dobrovolny R et al.
Journal of Molecular Medicine (berlin, Germany), 2005
[Molecular genetics of Fabry disease].
Sakuraba H
Seikagaku. the Journal of Japanese Biochemical Society, 1989
A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells.
Shimohata H et al.
Internal Medicine (tokyo, Japan), 0
p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease.
Carvalho Silva DM et al.
Cardiology, 0