Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25‐(OH)2D3 in Affected Patients
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DOI: 10.1002/jbmr.3135
Abstract: 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)2D3 ratio (R) can identify IIH patients on the… read more here.
Keywords: serum 2d3; infantile hypercalcemia; iih; idiopathic infantile ... See more keywords