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Insight into adult-onset metachromatic leukodystrophy with optic atrophy: A comprehensive case report

This abstract provides an overview of metachromatic leukodystrophy (MLD), an autosomal recessive disorder stemming from arylsulfatase A deficiency. MLD leads to cerebroside sulfate accumulation, causing central and peripheral demyelination. Clinical manifestations vary by age group: late-infantile (...

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Detalles Bibliográficos
Autores principales: Katwal, Shailendra, Suwal, Sundar, Lamichhane, Suman, Bhusal, Amrit, Ghimire, Aastha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10511329/
https://www.ncbi.nlm.nih.gov/pubmed/37745772
http://dx.doi.org/10.1016/j.radcr.2023.08.087