2015
A Practical Clinical Approach to Paediatric Phosphate Disorders
Imel EA, Carpenter TO. A Practical Clinical Approach to Paediatric Phosphate Disorders. Endocrine Development 2015, 28: 134-161. PMID: 26138840, DOI: 10.1159/000381036.Peer-Reviewed Original ResearchConceptsPhosphate disordersPractical clinical approachChronic clinical conditionsPhosphate metabolismChronic hypophosphataemiaPhosphate abnormalitiesAppropriate therapyChronic disordersPathophysiologic assessmentClinical conditionsClinical approachPhosphate physiologyCareful evaluationHyperphosphataemiaHypophosphataemiaDisordersMetabolismPatientsTherapyEtiologyAbnormalitiesDisease
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