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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 CASR gene, which provides instructions for producing the protein called calcium-sensing receptor (CaSR). Hypocalcemia in the neonatal period has a wide differ...

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Detalles Bibliográficos
Autores principales:	Teleanu, Raluca Ioana, Sarman, Marlene Alexandra, Epure, Diana Anamaria, Matei, Margarita, Roşca, Ioana, Roza, Eugenia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297011/ https://www.ncbi.nlm.nih.gov/pubmed/37371242 http://dx.doi.org/10.3390/children10061011

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