Associated Papers
Potential Usefulness of Lifetime Globotriaosylsphingosine Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients With Fabry Disease.
Hotta J et al.
Cureus, 2024
Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy.
Laffer B et al.
Frontiers in Immunology, 2024
Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.
Tsukimura T et al.
Molecular Genetics and Metabolism Reports, 2020
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P et al.
Orphanet Journal of Rare Diseases, 2020
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_MOESM2_ESM.xlsx › ST2
Biomarkers of Myocardial Fibrosis: Revealing the Natural History of Fibrogenesis in Fabry Disease Cardiomyopathy.
Aguiar P et al.
Journal of the American Heart Association, 2018
29535138 (PubMed )
Supplement: JAH3-7-e007124-s001.pdf
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Citro V et al.
International Journal of Molecular Sciences, 2016
27916943 (PubMed )
Supplement: ijms-17-02010-s001.zip › ijms-157565-supplementary_file_1_done.xlsx › Tabella_aggiornamento
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2016
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Lukas J et al.
Human Mutation, 2016
[Molecular genetics of Fabry disease].
Sakuraba H
Seikagaku. the Journal of Japanese Biochemical Society, 1989
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