Maternal hypercalcemia due to failure of 1,25-dihydroxyvitamin-D3 catabolism in a patient with CYP24A1 mutations

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 8, 2015, Pages 2832-2836

  Shah, Arti D ^a   Hsiao, Edward C ^a   O'Donnell, Betsy ^a   Salmeen, Kirsten ^a   Nussbaum, Robert ^a   Krebs, Michael ^b   Baumgartner Parzer, Sabina ^b   Kaufmann, Martin ^c   Jones, Glenville ^c   Bikle, Daniel D ^d   Wang, YongMei ^d   Mathew, Allen S ^e   Shoback, Dolores ^a,d   Block Kurbisch, Ingrid ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c QUEEN S UNIVERSITY   (Canada)

^d SAN FRANCISCO VETERANS AFFAIRS MEDICAL CENTER   (United States)

^e Redwood Renal Associates   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CALCIUM; COLECALCIFEROL 24 HYDROXYLASE; 1,25-DIHYDROXYVITAMIN D; CYP24A1 PROTEIN, HUMAN; VITAMIN D;

ADULT; ARTICLE; CALCIUM BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; CYP24A1 GENE; FEMALE; FOLLOW UP; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HYPERCALCEMIA; KIDNEY CALCIFICATION; LIQUID CHROMATOGRAPHY; LITHOTRIPSY; LOSS OF FUNCTION MUTATION; NEPHROLITHIASIS; PREGNANCY OUTCOME; PRIORITY JOURNAL; RECURRENT DISEASE; TANDEM MASS SPECTROMETRY; VITAMIN METABOLISM; ANALOGS AND DERIVATIVES; GENETICS; METABOLISM; MUTATION; PREGNANCY; PREGNANCY COMPLICATION;

ADULT; FEMALE; HUMANS; HYPERCALCEMIA; METABOLIC NETWORKS AND PATHWAYS; MUTATION; NEPHROLITHIASIS; PREGNANCY; PREGNANCY COMPLICATIONS; VITAMIN D; VITAMIN D3 24-HYDROXYLASE;

EID: 84939205211     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2015-1973     Document Type: Article

References (10)

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