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

Internet

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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