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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Vydáno v:JCI Insight
Hlavní autoři: Whyte, Michael P., Madson, Katherine L., Phillips, Dawn, Reeves, Amy L., McAlister, William H., Yakimoski, Amy, Mack, Karen E., Hamilton, Kim, Kagan, Kori, Fujita, Kenji P., Thompson, David D., Moseley, Scott, Odrljin, Tatjana, Rockman-Greenberg, Cheryl
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2016
Témata:
Clinical Medicine
On-line přístup: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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