Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole

Mutations in CYP24A1, encoding the vitamin D 24-hydroxlase enzyme, are known to cause a range of clinical phenotypes and presentations including idiopathic infantile hypercalcaemia and adult-onset nephrocalcinosis and nephrolithiasis. In the context of raised or borderline high serum calcium levels,...

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Detalles Bibliográficos
Autores principales: Sayers, Judith, Hynes, Ann Marie, Srivastava, Shalabh, Dowen, Frances, Quinton, Richard, Datta, Harish K., Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515887/
https://www.ncbi.nlm.nih.gov/pubmed/26251716
http://dx.doi.org/10.1093/ckj/sfv028

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