Associated Papers
Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
Delarosa-Rodríguez R et al.
Clinical Genetics, 2021
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
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
Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria.
Tøndel C et al.
Nephron, 2015
Select a paper to view details