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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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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926841/ https://www.ncbi.nlm.nih.gov/pubmed/28326335 http://dx.doi.org/10.1016/j.bonr.2015.10.005 |