Associated Papers
Fabry Disease: A Focus on the Role of Oxidative Stress.
Rydzek J et al.
Antioxidants (basel, Switzerland), 2026
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
Dorsal root ganglion magnetic resonance imaging biomarker correlations with pain in Fabry disease.
Schindehütte M et al.
Brain Communications, 2024
38751382 (PubMed )
Supplement: fcae155_supplementary_data.pdf
X-chromosomal inactivation patterns in women with Fabry disease.
Wagenhäuser L et al.
Molecular Genetics & Genomic Medicine, 2022
Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure.
Rickert V et al.
Journal of Internal Medicine, 2020
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Lukas J et al.
International Journal of Molecular Sciences, 2020
Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study.
Weidemann F et al.
Molecular Genetics and Metabolism, 2019
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
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 › Unknown
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
Usefulness of an Implantable Loop Recorder to Detect Clinically Relevant Arrhythmias in Patients With Advanced Fabry Cardiomyopathy.
Weidemann F et al.
The American Journal of Cardiology, 2016
Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.
Niemann M et al.
Circulation. Cardiovascular Genetics, 2014
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