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A closer look at ARSA activity in a patient with metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills with progression to dysphagia, seizures, hypoto...
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| 發表在: | Mol Genet Metab Rep |
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| Main Authors: | , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Elsevier
2019
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6383325/ https://ncbi.nlm.nih.gov/pubmed/30828547 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100460 |
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