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Article

Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy.

The Journal of clinical endocrinology and metabolism - 1 Mar 2012

Tebben Peter J, Milliner Dawn S, Horst Ronald L, Harris Peter C, Singh Ravinder J, Wu Yanhong, Foreman John W, Chelminski Paul R, Kumar Rajiv

Abstract excerpt

BACKGROUND: Mutations of the CYP24A1 gene, which encodes the 1,25-dihydroxyvitamin D-24-hydroxylase cytochrome P450, Cyp24A1, are predicted to result in elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrolithiasis, and bone disease. Treatment of hypercalcemia as...

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Identifiers

PMID: 22337913
DOI: 10.1210/jc.2011-1935
PMCID: PMC3319216

Genes

PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22337913-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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