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Article

Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)2 D3 in Affected Patients.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jul 2017

Kaufmann Martin, Morse Nicole, Molloy Billy Joe, Cooper Donald P, Schlingmann Karl Peter, Molin Arnaud, Kottler Marie Laure, Gallagher J Christopher, Armas Laura, Jones Glenville

Abstract excerpt

CYP24A1 mutations are now accepted as a cause of idiopathic infantile hypercalcemia (IIH). A rapid liquid-chromatography tandem mass spectrometry (LC-MS/MS)-based blood test enabling measurement of the 25-OH-D3 :24,25-(OH)2 D3 ratio (R) can identify IIH patients on the basis of reduced C24-hydroxylation of 25-OH-D3 by CYP24A1 in vivo. Although values of this ratio are significantly elevated in IIH, somewhat...

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PMID: 28304097
DOI: 10.1002/jbmr.3135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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