2011
Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia
Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN. Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia. The Journal Of Clinical Endocrinology & Metabolism 2011, 97: e268-e274. PMID: 22112808, PMCID: PMC3275367, DOI: 10.1210/jc.2011-1972.Peer-Reviewed Original ResearchConceptsIdiopathic infantile hypercalcemiaInfantile hypercalcemiaSingle patientVitamin D 24-hydroxylase geneReplication cohortIntestinal calcium absorptionAcademic medical centerWhole-exome sequencingIIH patientsClinic cohortAdditional patientsDihydroxyvitamin D.Inpatient studyPatient populationCalcium absorptionCYP24A1 geneMedical CenterHypercalcemiaMAIN OUTCOMEAdditional cohortIntestinal absorptionPatientsConsanguineous parentsVivo functional studiesCohort
1985
Serum osteocalcin concentrations in children with metabolic bone disease
Cole D, Carpenter T, Gundberg C. Serum osteocalcin concentrations in children with metabolic bone disease. The Journal Of Pediatrics 1985, 106: 770-776. PMID: 3873533, DOI: 10.1016/s0022-3476(85)80351-6.Peer-Reviewed Original ResearchConceptsMetabolic bone diseaseBone diseaseRenal failureSerum osteocalcinBone metabolismSerum osteocalcin valuesMean serum concentrationSerum osteocalcin concentrationYears of ageForms of ricketsPubertal growth spurtBlood osteocalcinSubacute changesApgar scoreRenal functionPeritoneal dialysisSerum levelsPatient populationSerum concentrationsOsteocalcin levelsRenal clearanceOsteocalcin concentrationsOsteocalcin valuesUseful markerVitamin K