1,25-(OH)(2)D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

BACKGROUND AND OBJECTIVES: Elevated serum vitamin D with hypercalciuria can result in nephrocalcinosis and nephrolithiasis. This study evaluated the cause of excess 1,25-dihydroxycholecalciferol (1α,25(OH)(2)D(3)) in the development of those disorders in two individuals. DESIGN, SETTING, PARTICIPANT...

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Detalhes bibliográficos
Main Authors: Nesterova, Galina, Malicdan, May Christine, Yasuda, Kaori, Sakaki, Toshiyuki, Vilboux, Thierry, Ciccone, Carla, Horst, Ronald, Huang, Yan, Golas, Gretchen, Introne, Wendy, Huizing, Marjan, Adams, David, Boerkoel, Cornelius F., Collins, Michael T., Gahl, William A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2013
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3613951/
https://ncbi.nlm.nih.gov/pubmed/23293122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.05360512
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