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

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

GM2 and GM1 gangliosidoses are genetic, neurodegenerative lysosomal sphingolipid storage disorders. The earlier the age of onset, the more severe the clinical presentation and progression, with infantile, juvenile and late-onset presentations broadly delineated into separate phenotypic subtypes. Gen...

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Bibliographic Details
Main Authors: Richard W.D. Welford, Herve Farine, Michel Steiner, Marco Garzotti, Kostantin Dobrenis, Claudia Sievers, Daniel S. Strasser, Yasmina Amraoui, Peter M.A. Groenen, Roberto Giugliani, Eugen Mengel
Format: Article
Language:English
Published: Elsevier 2022-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Gangliosidosis
Neurofilament
Biomarker
Lysosome
Lysosphingolipid
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000039

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