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2012 | 1 |
2018 | 1 |
2023 | 1 |
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Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.
BMC Pediatr. 2018 Oct 30;18(1):340. doi: 10.1186/s12887-018-1319-0.
BMC Pediatr. 2018.
PMID: 30376845
Free PMC article.
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. ...
BACKGROUND: Neonatal severe primary hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calciu …
Successful use of bisphosphonate and calcimimetic in neonatal severe primary hyperparathyroidism.
Wilhelm-Bals A, Parvex P, Magdelaine C, Girardin E.
Wilhelm-Bals A, et al.
Pediatrics. 2012 Mar;129(3):e812-6. doi: 10.1542/peds.2011-0128. Epub 2012 Feb 13.
Pediatrics. 2012.
PMID: 22331334
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Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature.
Koca SB.
Koca SB.
Turk J Pediatr. 2023;65(5):853-861. doi: 10.24953/turkjped.2022.1040.
Turk J Pediatr. 2023.
PMID: 37853976
Free article.
Review.
Heterozygous Calcium-sensing receptor (CASR) gene mutations cause FHH, and homozygous CASR gene mutations cause neonatal severe primary hyperparathyroidism (NSHPT). Cinacalcet is an allosteric modulator of Calciumsensing receptor (CaSR), and has been u …
Heterozygous Calcium-sensing receptor (CASR) gene mutations cause FHH, and homozygous CASR gene mutations cause neonatal severe …
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