Associated Papers
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant.
Capelli I et al.
Molecular Genetics & Genomic Medicine, 2024
Is the alpha-galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review.
Effraimidis G et al.
Journal of Inherited Metabolic Disease, 2020
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 2018
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
Lavalle L et al.
Plos One, 2018
29621274 (PubMed )
Supplement: pone.0193550.s004.pdf
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
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Liguori R et al.
Plos One, 2017
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients.
Massaccesi L et al.
Clinical Biochemistry, 2011
[Contribution of genotyping in Fabry's disease].
Froissart R et al.
La Revue De Medecine Interne, 2010
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
20629180 (PubMed )
Supplement: supplement_1.pdf
The pulvinar sign: frequency and clinical correlations in Fabry disease.
Burlina AP et al.
Journal of Neurology, 2008
Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein.
Dominissini S et al.
Human Heredity, 2004
[Gaucher's and Fabry's diseases: biochemical and genetic aspects].
Caillaud C et al.
Journal De La Societe De Biologie, 2002
Fabry disease: 20 novel GLA mutations in 35 families.
Blaydon D et al.
Human Mutation, 2001
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