Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

BACKGROUND: Neonatal severe primary hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis, characterized by striking hyperparathyroidism, marked hypercalcemia and hyperparathyroid bone disease. We report the case of a newborn with a novel homozygous mutation of th...

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Detalles Bibliográficos
Autores principales: Capozza, Manuela, Chinellato, Iolanda, Guarnieri, Vito, Di lorgi, Natascia, Accadia, Maria, Traggiai, Cristina, Mattioli, Girolamo, Di Mauro, Antonio, Laforgia, Nicola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208175/
https://www.ncbi.nlm.nih.gov/pubmed/30376845
http://dx.doi.org/10.1186/s12887-018-1319-0

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