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EnglishNeonatal 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 the CaSR, treated by successful subtotal parathyroidectomy, who had an acute presentation of the disease, i.e. out-of hospital cardiorespiratory arrest. .
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| Titolo: | Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation |
| Autori: | |
| Data di pubblicazione: | 2018 |
| Rivista: | |
| Abstract: | 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 the CaSR, treated by successful subtotal parathyroidectomy, who had an acute presentation of the disease, i.e. out-of hospital cardiorespiratory arrest. . |
| Handle: | http://hdl.handle.net/11586/223497 |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
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