ArticleInternal medicine (Tokyo, Japan)2019
Clinical Diversity in Patients with Anderson-fabry Disease with the R301Q Mutation.
Article in Internal medicine (Tokyo, Japan), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Genome sequencing reveals the prevalence of Fabry disease-causing variants in Japan: Evidence from the Tohoku Medical Megabank.Genetics in medicine open · 2026Article
- Functional and histopathologic correlation in the fabry nephropathy with N215S genotype.Orphanet journal of rare diseases · 2025Article
- Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex.Cells · 2025Article
- Phenotypic Expression and Outcomes in Patients with the p.Arg301GlnInternational journal of molecular sciences · 2024Observational
- Article
- The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology.Orphanet journal of rare diseases · 2022Article
- Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.Frontiers in pediatrics · 2022Review
- High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.Diagnostics (Basel, Switzerland) · 2021Review
- A classic variant of Fabry disease in a family with the M296I late-onset variant.CEN case reports · 2021Article
- Fabry Disease with Pacemaker Implantation as the Initial Event.Internal medicine (Tokyo, Japan) · 2019Article
- Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy.Case reports in nephrology and dialysisArticle
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A (α-GAL A). We herein report 10 cases of AFD in 5 families (3 men and 7 women) that were found to have a specific common mutation in R301Q [G-to-A transition in exon 6 (codon 301) resulting in the replacement of a glutamine with an arginine residue]. We evaluated their clinical characteristics, residual enzymatic activity, and plasma concentrations of globotriaosylsphingosine (Lyso-Gb3). Although all 10 cases had cardiac and renal manifestations in common, their clinical manifestations were markedly divergent despite the same genetic abnormality.
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