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MON-341 New Diagnosis of Hypophosphatasia in a 79-Year-Old Woman with Low Bone Density
Introduction: Hypophosphatasia is a rare metabolic bone disease caused by one of several mutations in the ALPL gene which encodes tissue nonspecific alkaline phosphatase (ALP). It is usually diagnosed in childhood and can have a heterogenous clinical presentation depending on the extent of enzyme de...
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| Publié dans: | J Endocr Soc |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Oxford University Press
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7207544/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1252 |
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