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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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| Veröffentlicht in: | N Am J Med Sci (Boston) |
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| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2013
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| Schlagworte: | |
| Online Zugang: | 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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