%0 Journal Article
%T Update on the management of hypophosphatasia
%A J. S. Bubbear
%A V. Choida
%J Archive of "Therapeutic Advances in Musculoskeletal Disease".
%D 2019
%R 10.1177/1759720X19863997
%X Hypophosphatasia is a rare inherited disease caused by a loss of function mutations in the gene that codes for the tissue-nonspecific alkaline phosphatase enzyme. It is autosomally inherited and at least 388 different genetic defects have been identified. The clinical presentation is variable from a severe perinatal form, that is fatal if untreated, to adult-onset disease. This review covers the pathophysiology, diagnosis and current management option including the recently licensed enzyme replacement therapy asfotase alfa
%K alkaline phosphatase
%K asfotase alfa
%K hypophosphatasia
%K osteomalacia
%K rickets
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6676257/