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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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Detalles Bibliográficos
Autor principal: Braunstein, Neil A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
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