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The hypercalcaemia of CYP24A1 inactivation: new ways to improve diagnosis and treatment

This case report presents fluoconazole efficacy to reduce hypercalcaemia and increased urinary calcium excretion in a patient with nephrocalcinosis after a long history of recurrent renal stones caused by a loss-of-function mutation of the CYP24A1 gene. The CYP24A1 gene codes for a key enzyme in the...

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Detalles Bibliográficos
Autores principales: Dusso, Adriana S., Gomez-Alonso, Carlos, Cannata-Andia, Jorge B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515908/
https://www.ncbi.nlm.nih.gov/pubmed/26251717
http://dx.doi.org/10.1093/ckj/sfv058