Associated Papers
Plasma and platelet lipidome changes in Fabry disease.
Burla B et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E et al.
Clinical and Experimental Nephrology, 2023
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
Hypermobile Ehlers-Danlos-like syndrome in Fabry disease.
Barbey F et al.
Clinical Genetics, 2019
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
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
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