Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia

Hypophosphatasia (HPP) is a rare, inherited metabolic bone disease resulting from mutations in the gene encoding tissue non-specific alkaline phosphatase. The biochemical hallmark and key diagnostic indicator is low alkaline phosphatase activity, which leads to a variety of clinical manifestations a...

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Bibliographic Details
Main Author: Neil A. Braunstein
Format: Article
Language:English
Published: Elsevier 2016-06-01
Series:Bone Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S235218721530022X