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...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , |
|---|---|
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Karnali Academy of Health Sciences
2021-01-01
|
| Cyfres: | Journal of Karnali Academy of Health Sciences |
| Pynciau: | |
| Mynediad Ar-lein: | https://www.jkahs.org.np/jkahs/index.php/jkahs/article/view/399 |
| Tagiau: |
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|