Associated Papers
Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Stiles AR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
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
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
33016649 (PubMed )
Supplement: MGG3-8-e1502-s001.xlsx › Table_S1
Newborn screening for Fabry disease in the western region of Japan.
Sawada T et al.
Molecular Genetics and Metabolism Reports, 2020
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_MOESM2_ESM.xlsx › ST2
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
A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels.
Chinen Y et al.
Human Genome Variation, 2017
Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.
Sam C et al.
Metabolic Brain Disease, 2015
Late-onset Brooke-Spiegler syndrome with family histories of various cancers.
Matsuda M et al.
The Journal of Dermatology, 2014
Novel G144D mutation of the GLA gene in a Chinese patient with Fabry disease.
Li H et al.
The Journal of Dermatology, 2014
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