Marco Garzotti

Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study

Richard W.D. Welford, Marco Garzotti, Charles Marques Lourenço et al. · PLoS ONE · 2014 · 93 citations · Full text

Creutzfeldt-jakob Disease, Neurological Disorder, Clinical Neurology +23

Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types

Richard W.D. Welford, Andreas Mühlemann, Marco Garzotti et al. · Human Molecular Genetics · 2018 · 42 citations · Full text

Serotonin biosynthesis as a predictive marker of serotonin pharmacodynamics and disease-induced dysregulation

Richard W.D. Welford, Magali Vercauteren, Annette Trébaul et al. · Scientific Reports · 2016 · 41 citations · Full text

Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann–Pick disease type C in a retrospective study

Richard W.D. Welford, Marco Garzotti, Charles Marques Lourenço et al. · Molecular Genetics and Metabolism · 2015 · 31 citations

Retrospective Study, Neurological Disorder, Clinical Neurology +7

Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients

Richard W.D. Welford, Hervé Farine, Michel A. Steiner et al. · Molecular Genetics and Metabolism Reports · 2022 · 22 citations · Full text