Hypervitaminosis D Secondary to a CYP24A1 Loss‐of‐Function Mutation: An Unusual Cause of Hypercalcemia in Two Siblings

Hypervitaminosis D as a cause of hypercalcemia may be due to vitamin D intoxication, granulomatous diseases, or abnormalities of vitamin D metabolism. The CYP24A1 gene encodes for the 24‐hydroxylase enzyme, which is responsible for the catabolism of 25‐hydroxyvitamin D (25(OH)D) and 1,25‐dihydroxyvi...

Descripción completa

Detalles Bibliográficos
Autores principales: Collins, Lucy, Boehm, Emma, Luxford, Catherine, Clifton‐Bligh, Roderick, Grill, Vivian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Studies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494500/
https://www.ncbi.nlm.nih.gov/pubmed/37701149
http://dx.doi.org/10.1002/jbm4.10788

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494500/
https://www.ncbi.nlm.nih.gov/pubmed/37701149
http://dx.doi.org/10.1002/jbm4.10788

Ejemplares similares