Associated Papers
Incidental diagnosis of Fabry disease by detecting mulberry bodies in a Bangladeshi male with infertility and residing in Japan: a case report highlighting clinical and economic challenges.
Kojo K et al.
Journal of Rural Medicine : Jrm, 2025
Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective study.
Lin Z et al.
Esc Heart Failure, 2024
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
38047356 (PubMed )
Supplement: circgenetics_circcvg-2023-004252-t_supp1.pdf
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
37441486 (PubMed )
Supplement: mmc1.pdf
Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry.
Li R et al.
Frontiers in Pediatrics, 2022
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 2018
Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.
Doheny D et al.
Journal of Medical Genetics, 2018
Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).
Palecek T et al.
Journal of Inherited Metabolic Disease, 2014
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