2013•Zhonghua linchuang yishi zazhiRequires access

Advances in research on hypophosphatasia

Lu We

Abstract

Hypophosphatasia(HPP) is an inheritable disorder caused by mutations in ALPL gene encoding tissue non-specific alkaline phosphatase(TNAP). The disease is characterized by typical insufficiency mineralization of hard tissue such as bone and tooth. The serum alkaline phosphatase(ALP) activity is also low. In this article, we reviewed the research progress on hypophosphatasia with recent literatures.

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Key concepts: Hypophosphatasia, Alkaline phosphatase, Endocrinology, Mineralization (soil science), Internal medicine, Medicine, Enzyme, Chemistry