Toward Reference Intervals of ARSA Activity in the Cerebrospinal Fluid: Implication for the Clinical Practice of Metachromatic Leukodystrophy
Articolo
Data di Pubblicazione:
2021
Citazione:
Toward Reference Intervals of ARSA Activity in the Cerebrospinal Fluid: Implication for the Clinical Practice of Metachromatic Leukodystrophy / Morena, Francesco; Argentati, Chiara; Acquati, Serena; Dewall, Stephen; Kelly, Fiona; Calbi, Valeria; Fumagalli, Francesca; Zancan, Stefano; Biffi, Alessandra; Aiuti, Alessandro; Martino, Sabata. - In: THE JOURNAL OF APPLIED LABORATORY MEDICINE. - ISSN 2475-7241. - 6:2(2021), pp. 354-366. [Epub ahead of print] [10.1093/jalm/jfaa108]
Abstract:
Cerebrospinal fluid (CSF) has emerged as a sensitive matrix for the screening of biomarkers for diagnosis and clinical follow-up of diseases with neurological manifestations, including some lysosomal storage disorders. In this study, we assessed the range of values of arylsulfatase A (ARSA) activity in the CSF of pediatric and adult donors, and in pediatric patients who underwent gene therapy for metachromatic leukodystrophy (MLD).
Tipologia CRIS:
1.1 Articolo in rivista
Elenco autori:
Morena, Francesco; Argentati, Chiara; Acquati, Serena; Dewall, Stephen; Kelly, Fiona; Calbi, Valeria; Fumagalli, Francesca; Zancan, Stefano; Biffi, Alessandra; Aiuti, Alessandro; Martino, Sabata
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