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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207544/ http://dx.doi.org/10.1210/jendso/bvaa046.1252 |