Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due...
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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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...
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Full title
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
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TN_cdi_doaj_primary_oai_doaj_org_article_6b90cda09d984b3c8482fd636b00914d
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6b90cda09d984b3c8482fd636b00914d
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ISSN
1471-2431
E-ISSN
1471-2431
DOI
10.1186/s12887-018-1319-0
