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
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
Cognitive and psychological functioning in Fabry disease.
Sigmundsdottir L et al.
Archives of Clinical Neuropsychology : the Official Journal of the National Academy of Neuropsychologists, 2014
Left atrial enlargement and reduced atrial compliance occurs early in Fabry cardiomyopathy.
Boyd AC et al.
Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography, 2013
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Cardiovascular manifestations in Fabry disease: a clinical and echocardiographic study.
Sadick N et al.
Heart, Lung & Circulation, 2007
Clinical features of Fabry's disease in Australian patients.
Galanos J et al.
Internal Medicine Journal, 2002
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
Germain DP
Journal De La Societe De Biologie, 2002
Fluorescent sequencing for heterozygote mutation detection.
Graham CA et al.
Methods in Molecular Biology (clifton, N.j.), 2001
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
Ashley GA et al.
Journal of Human Genetics, 2001
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.
Blanch LC et al.
Human Mutation, 1996