Take another CYP: confirming a novel mechanism for "idiopathic" hypercalcemia.
作者信息
Carpenter Thomas O
出版信息
J Clin Endocrinol Metab. 2012 Mar;97(3):768-71. doi: 10.1210/jc.2012-1110.
Abstract
摘要
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本文引用的文献
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Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy.
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2
Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.
J Clin Endocrinol Metab. 2012 Feb;97(2):E268-74. doi: 10.1210/jc.2011-1972. Epub 2011 Nov 23.
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Mutations in CYP24A1 and idiopathic infantile hypercalcemia.
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