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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| Format: | Article |
| Language: | English |
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Elsevier
2016-06-01
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| Series: | Bone Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S235218721530022X |