Associated Papers
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.
Nowak A et al.
Journal of Medical Genetics, 2022
33495303 (PubMed )
Supplement: jmedgenet-2020-107338supp001.pdf
Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients.
Wiest MRJ et al.
Journal of Clinical Medicine, 2021
Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy.
Franzen D et al.
Bmj Open Respiratory Research, 2018
29713479 (PubMed )
Supplement: bmjresp-2018-000277supp001.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 › Unknown
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
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
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