Hypercalciuria caused by CYP24A1 mutation: Fourteen years of the patient’s follow-up

Introduction. Recently, inactivation mutations of CYP24A1, the gene encoding vitamin D 24-hydroxylase, were identified in hypercalciuric nephrolithiasis and nephrocalcinosis. Here, we describe а long-term follow-up of a patient with hypercalciuric nephrolithiasis caused by CYP24A1 mutations. Case ou...

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Principais autores:	Peco-Antić Amira, Ivelja Biljana, Miloševski-Lomić Gordana, Paripović Dušan, Konrad Martin
格式:	Artigo
语言:	Inglês
出版:	Serbian Medical Society 2018-01-01
丛编:	Srpski Arhiv za Celokupno Lekarstvo
主题:	Hereditary nephrolithiasis nephrocalcinosis hypervitaminosis D idiopathic hypercalcemia
在线阅读:	http://www.doiserbia.nb.rs/img/doi/0370-8179/2018/0370-81791700095P.pdf
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