MON-497 Adult Onset Hypophosphatasia: Before and After Treatment with Asfotase Alfa

Hypophosphatasia is a rare inherited bone disease resulting from mutations in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme predominant in skeleton, liver, kidney and teeth. Diminished TNSALP activity causes accumulation of substrates that inhibit bone mineralization...

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Bibliografske podrobnosti
izdano v:J Endocr Soc
Main Authors: Magdaleno, Angela, Venkataraman, Sandhya, Singh, Sonum, Lee, Ya-Yu
Format: Artigo
Jezik:Inglês
Izdano: Endocrine Society 2019
Teme:
Bone and Mineral Metabolism
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6550981/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-MON-497
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