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Review
. 2020 Aug;31(8):1445-1460.
doi: 10.1007/s00198-020-05345-9. Epub 2020 Mar 11.

Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment

M L Bianchi  1 , N J Bishop  2 , N Guañabens  3 , C Hofmann  4 , F Jakob  5 , C Roux  6 , M C Zillikens  7 ; Rare Bone Disease Action Group of the European Calcified Tissue Society
Affiliations
Review

Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment

M L Bianchi et al. Osteoporos Int. 2020 Aug.

Abstract

This article provides an overview of the current knowledge on hypophosphatasia-a rare genetic disease of very variable presentation and severity-with a special focus on adolescents and adults. It summarizes the available information on the many known mutations of tissue-nonspecific alkaline phosphatase (TNSALP), the epidemiology and clinical presentation of the disease in adolescents and adults, and the essential diagnostic clues. The last section reviews the therapeutic approaches, including recent reports on enzyme replacement therapy (EnzRT).

Keywords: Alkaline phosphatase; Bone; Fractures; Hypomineralization; Hypophosphatasia; Teeth.

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