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ODP592 Delay in Diagnosis of Adult with Familial Hypophosphatasia
BACKGROUND: Familial Hypophosphatasia (HPP) is a rare genetic disorder characterized by defecitve bone and/or teeth mineralization in the presence of low alkaline phosphatase activity due to loss-of-function mutations in the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene. HPP typical...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9628716/ http://dx.doi.org/10.1210/jendso/bvac150.383 |