Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix

BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by mutations in the arylsulfatase A gene (ARSA) and categorized into three subtypes according to age of onset. The functional effect of most ARSA mutants remains unknown; better understanding of the genotype–phenot...

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Detalles Bibliográficos
Autores principales: Trinidad, Marena, Hong, Xinying, Froelich, Steven, Daiker, Jessica, Sacco, James, Nguyen, Hong Phuc, Campagna, Madelynn, Suhr, Dean, Suhr, Teryn, LeBowitz, Jonathan H., Gelb, Michael H., Clark, Wyatt T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10360315/
https://www.ncbi.nlm.nih.gov/pubmed/37480112
http://dx.doi.org/10.1186/s13059-023-03001-z

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