Metachromatic Leucodystrophy: A Case Report
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive inherited disease, which is caused by a deficiency in the enzyme activity of Arylsulfatase A (ARSA). Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant i...
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| Principais autores: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Karnali Academy of Health Sciences
2021-01-01
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| Serier: | Journal of Karnali Academy of Health Sciences |
| Fag: | |
| Online adgang: | https://www.jkahs.org.np/jkahs/index.php/jkahs/article/view/399 |
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