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Osteoporosis International
Published in: Osteoporosis International 8/2020

01-08-2020 | Hypophosphatasia | Review

Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment

Authors: M. L. Bianchi, N. J. Bishop, N. Guañabens, C. Hofmann, F. Jakob, C. Roux, M. C. Zillikens, On behalf of the Rare Bone Disease Action Group of the European Calcified Tissue Society

Published in: Osteoporosis International | Issue 8/2020

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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).
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Metadata
Title
Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment
Authors
M. L. Bianchi
N. J. Bishop
N. Guañabens
C. Hofmann
F. Jakob
C. Roux
M. C. Zillikens
On behalf of the Rare Bone Disease Action Group of the European Calcified Tissue Society
Publication date
01-08-2020
Publisher
Springer London
Published in
Osteoporosis International / Issue 8/2020
Print ISSN: 0937-941X
Electronic ISSN: 1433-2965
DOI
https://doi.org/10.1007/s00198-020-05345-9

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