Associated Papers
Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.
Jurickova K et al.
Journal of Personalized Medicine, 2022
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Ferri L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.
Liao HC et al.
Molecular Genetics and Metabolism, 2018
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
High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.
Lee SH et al.
Molecular Genetics and Metabolism, 2014
The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.
Tai CL et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
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