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Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy
Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive disease, which is caused by mutations in the arylsulfatase A (ARSA) gene. The ARSA gene is located on chromosome 22q13, containing eight exons. According to the age of onset, MLD can be divided into late infantile type, juvenile type,...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9619211/ https://www.ncbi.nlm.nih.gov/pubmed/36324388 http://dx.doi.org/10.3389/fneur.2022.1011019 |