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Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.
Arylsulphatase A (ASA, EC 3.1.6.1) is a lysosomal enzyme that catalyses cerebroside sulphate degradation. ASA deficiency is associated with metachromatic leucodystrophy (MLD), a rare autosomal recessive disorder, which is characterised by the storage of cerebroside sulphate. Low ASA activities can b...
Shranjeno v:
| Main Authors: | , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1994
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1050073/ https://ncbi.nlm.nih.gov/pubmed/7815433 |
| Oznake: |
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