Associated Papers
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 › Classic
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies.
Eng CM et al.
American Journal of Human Genetics, 2001
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Eng CM et al.
Human Mutation, 1994
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
Eng CM et al.
American Journal of Human Genetics, 1993
Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.
Glass RB et al.
Journal of Computer Assisted Tomography, 0
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