Associated Papers
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
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
Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy.
Bersano A et al.
Acta Neurologica Scandinavica, 2012
Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.
Erdos M et al.
Molecular Genetics and Metabolism, 2008
[Fabry disease in light of recent review].
Uyama E
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2008
Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene.
Garzuly F et al.
Brain : a Journal of Neurology, 2005
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