Associated Papers
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
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.
Arends M et al.
Journal of Inherited Metabolic Disease, 2018
29039131 (PubMed )
Supplement: 10545_2017_95_MOESM1_ESM.pdf
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
Arends M et al.
Journal of the American Society of Nephrology : Jasn, 2017
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 › Unknown
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.
Arends M et al.
Plos One, 2017
28763515 (PubMed )
Supplement: pone.0182379.s004.pdf
Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review.
van der Tol L et al.
The British Journal of Ophthalmology, 2016
In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.
van der Tol L et al.
Jimd Reports, 2016
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
Smid BE et al.
Journal of Medical Genetics, 2015
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