Associated Papers
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing.
Pan Y et al.
Molecular Genetics and Metabolism, 2025
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
Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing.
Nowak A et al.
Scientific Reports, 2021
Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.
Rossi F et al.
High Blood Pressure & Cardiovascular Prevention : the Official Journal of the Italian Society of Hypertension, 2021
Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients.
Wiest MRJ et al.
Journal of Clinical Medicine, 2021
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Germain DP et al.
Journal of Medical Genetics, 2020
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
Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.
Lenders M et al.
Journal of Internal Medicine, 2017
Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease.
Nowak A et al.
Molecular Genetics and Metabolism, 2017
Metabolic progression to clinical phenotype in classic Fabry disease.
Spada M et al.
Italian Journal of Pediatrics, 2017
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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