A closer look at ARSA activity in a patient with metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills with progression to dysphagia, seizures, hypoto...

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Detalles Bibliográficos
Autores principales: Doherty, Kathleen, Frazier, S. Barron, Clark, Matthew, Childers, Anna, Pruthi, Sumit, Wenger, David A., Duis, Jessica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383325/
https://www.ncbi.nlm.nih.gov/pubmed/30828547
http://dx.doi.org/10.1016/j.ymgmr.2019.100460

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