Article
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
Bone - 1 Jun 2015
Whyte Michael P, Zhang Fan, Wenkert Deborah, McAlister William H, Mack Karen E, Benigno Marci C, Coburn Stephen P, Wagy Susan, Griffin Donna M, Ericson Karen L, Mumm Steven
Abstract excerpt
Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) within the gene TNSALP that encodes the "tissue-nonspecific" isoenzyme of alkaline phosphatase (TNSALP). In HPP, inorganic pyrophosphate, an inhibitor of mineralization and substrate for TNSALP, accumulates extracellularly often leading to rickets or osteomalacia and tooth loss, and sometimes to craniosynostosis and calcium crystal arthropathies....
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