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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...
Autores principales: | Capozza, Manuela, Chinellato, Iolanda, Guarnieri, Vito, Di lorgi, Natascia, Accadia, Maria, Traggiai, Cristina, Mattioli, Girolamo, Di Mauro, Antonio, Laforgia, Nicola |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
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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