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- Title
Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment.
- Authors
Bianchi, M. L.; Bishop, N. J.; Guañabens, N.; Hofmann, C.; Jakob, F.; Roux, C.; Zillikens, M. C.
- 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).
- Subjects
INBORN errors of metabolism diagnosis; ALKALINE phosphatase; INBORN errors of metabolism; METALS in the body; GENETIC mutation; PROFESSIONS; RARE diseases; SEVERITY of illness index; SYMPTOMS; ADOLESCENCE; ADULTS
- Publication
Osteoporosis International, 2020, Vol 31, Issue 8, p1445
- ISSN
0937-941X
- Publication type
Article
- DOI
10.1007/s00198-020-05345-9