Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures

Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures

Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism that is characterized by gain-of-function mutations in the <i>CASR</i> gene, which provides instructions for producing the protein called calcium-sensing receptor (CaSR). Hypocalcemia in the neonatal perio...

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Bibliographic Details
Main Authors: Raluca Ioana Teleanu, Marlene Alexandra Sarman, Diana Anamaria Epure, Margarita Matei, Ioana Roşca, Eugenia Roza
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Children
Subjects:
neonatal hypocalcemia
seizures
hypoparathyroidism
hypercalciuria
calcium-sensing receptor
Online Access:https://www.mdpi.com/2227-9067/10/6/1011

Internet

https://www.mdpi.com/2227-9067/10/6/1011

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