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Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases
Lysosomal storage diseases (LSDs) are a group of more than 50 genetic disorders. Clinical symptoms are caused by the deficiency of specific enzyme (enzymes) function and resultant substrate accumulation in the lysosomes, which leads to impaired cellular function and progressive tissue and organ dysf...
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| 出版年: | N Am J Med Sci (Boston) |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4902264/ https://ncbi.nlm.nih.gov/pubmed/27293520 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7156/najms.2013.0604186 |
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