Associated Papers
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
Mauhin W et al.
Journal of Clinical Medicine, 2022
35268324 (PubMed )
Supplement: jcm-11-01233-s001.zip › jcm-1583311-supplementary.pdf
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.
Dutra-Clarke M et al.
Molecular Genetics and Metabolism Reports, 2021
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Germain DP et al.
Journal of Medical Genetics, 2020
32161151 (PubMed )
Supplement: jmedgenet-2019-106467supp001.pdf
Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.
Lombardi S et al.
Rna Biology, 2020
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W et al.
Plos One, 2020
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
Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?
Böttcher T et al.
Plos One, 2013
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