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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Bibliografiset tiedot
Julkaisussa:JCI Insight
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Clinical Investigation 2016
Aiheet:
Clinical Medicine
Linkit: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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