Asfotase alfa therapy for children with hypophosphatasia
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Open Access
- 16 June 2016
- journal article
- Published by American Society for Clinical Investigation in JCI Insight
- Vol. 1 (9), e85971
- https://doi.org/10.1172/jci.insight.85971
Abstract
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 pyrophosphate, a natural substrate of TNSALP and inhibitor of mineralization. Children with HPP can manifest rickets, skeletal pain, deformity, fracture, muscle weakness, and premature deciduous tooth loss. Asfotase alfa is a recombinant, bone-targeted, human TNSALP injected s.c. to treat HPP. In 2012, we detailed the 1-year efficacy of asfotase alfa therapy for the life-threatening perinatal and infantile forms of HPP.This publication has 21 references indexed in Scilit:
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