Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation

Abstract Introduction: Inactivating mutations of the calcium-sensing receptor (CASR) gene result in neonatal severe hyperparathyroidism (NSHPT). Total parathyroidectomy is an effective way to control life-threatening hypercalcemia in NSHPT but leads to permanent hypoparathyroidism. An alternative su...

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Veröffentlicht in:	Hormone research in paediatrics 2023, Vol.96 (4), p.432-438
Hauptverfasser:	Wejaphikul, Karn, Dejkhamron, Prapai, Khorana, Jiraporn, Watcharachan, Kirati, Intachai, Worrachet, Olsen, Bjorn, Tongsima, Sissades, Ketudat Cairns, James R., Ngamphiw, Chumpol, Kantaputra, Piranit
Format:	Artikel
Sprache:	eng
Schlagworte:	Calcitriol Calcium Cinacalcet - therapeutic use Humans Hypercalcemia - drug therapy Hypercalcemia - genetics Hyperparathyroidism, Primary - genetics Hypoparathyroidism - drug therapy Hypoparathyroidism - genetics Infant Infant, Newborn Mutation Novel Insights from Clinical Practice / Case Report Parathyroidectomy Receptors, Calcium-Sensing - genetics
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