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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 (...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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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 |