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RF30 | PSAT178 Severe Hyperparathyroidism in a Newborn: Response to Cinacalcet

BACKGROUND: Neonatal severe hyperparathyroidism (NSHPT) is a rare potentially lethal disorder caused by inactivating mutations in the calcium sensing receptor (CASR) gene. In newborns it presents with multiple bone fractures often confused with forms of osteogenesis imperfecta. Diagnostic and therap...

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Detalles Bibliográficos
Autores principales:	Welch, Lurah, Maldonado, Leopoldo, Banadera, Felix, Trapane, Pamela, Hasan, Reham, Benson, Matthew, Levine, Michael, Mauras, Nelly
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Bone & Mineral Metabolism
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9707015/ http://dx.doi.org/10.1210/jendso/bvac150.478

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