Associated Papers
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
37441486 (PubMed )
Supplement: mmc1.pdf
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 2018
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.
Cimmaruta C et al.
Bmc Bioinformatics, 2018
30497360 (PubMed )
Supplement: 12859_2018_2416_MOESM1_ESM.xlsx › ST1
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 › Non-Classic
Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study.
Fidalgo T et al.
European Journal of Haematology, 2015
Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.
Sueoka H et al.
Plos One, 2015
Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.
Tsukimura T et al.
Molecular Genetics and Metabolism Reports, 2014
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
[Molecular genetics of Fabry disease].
Sakuraba H
Seikagaku. the Journal of Japanese Biochemical Society, 1989
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