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THU461 Severe Hypercalcemia Associated With Perinatal Hypophosphatasia While Receiving Enzyme Replacement Therapy
Disclosure: M. Salama: None. P.J. Tebben: None. Introduction: Hypophosphatasia (HPP) is characterized by defective bone mineralization due to reduced function of tissue non-specific alkaline phosphatase (TNSALP) from pathogenic ALPL gene variants. Initial presentation varies according to the clinica...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555444/ http://dx.doi.org/10.1210/jendso/bvad114.422 |