Article
Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Aug 2020
Bianchi M L, Bishop N J, Guañabens N, Hofmann C, Jakob F, Roux C, Zillikens M C
Abstract excerpt
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...
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