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Asfotase alfa therapy for children with hypophosphatasia
Background. Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Consequently, cell-surface deficiency of TNSALP phosphohydrolase activity leads to extracellular accumulation of inorganic pyrophos...
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| I publikationen: | JCI Insight |
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| Huvudupphovsmän: | , , , , , , , , , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
American Society for Clinical Investigation
2016
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5033855/ https://ncbi.nlm.nih.gov/pubmed/27699270 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.85971 |
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