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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Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society of Nephrology 2013
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Original Articles
Online-ссылка: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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