2017
CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations
Carpenter TO. CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations. The Journal Of Steroid Biochemistry And Molecular Biology 2017, 173: 337-340. PMID: 28093352, DOI: 10.1016/j.jsbmb.2017.01.006.Peer-Reviewed Original ResearchConceptsVitamin D metabolismD metabolismParathyroid hormoneActive vitamin D metaboliteVitamin D supplementationDietary calcium intakeIdiopathic infantile hypercalcemiaLikely disease-causing variantsVitamin D metabolitesVitamin D pathwayCalcium homeostatic systemCompound heterozygote mutationsFunction mutationsD supplementationSymptomatic hypercalcemiaCalcium intakeUnrecognized causeVitamin DCalcium metabolismD metabolitesInfantile hypercalcemiaDisease-causing variantsVariant mutationsLoss of functionActive metabolite
2003
Nutritional Rickets with Normal Circulating 25-Hydroxyvitamin D: A Call for Reexamining the Role of Dietary Calcium Intake in North American Infants
DeLucia MC, Mitnick ME, Carpenter TO. Nutritional Rickets with Normal Circulating 25-Hydroxyvitamin D: A Call for Reexamining the Role of Dietary Calcium Intake in North American Infants. The Journal Of Clinical Endocrinology & Metabolism 2003, 88: 3539-3545. PMID: 12915633, DOI: 10.1210/jc.2002-021935.Peer-Reviewed Original ResearchConceptsDietary calcium intakeNutritional ricketsCalcium intakeNorth American infantsAmerican infantsLow dietary calcium intakeOptimal dietary practicesVitamin D supplementationVitamin D deficiencyVitamin D therapyGreater New HavenD supplementationRachitic abnormalitiesD deficiencyD therapyDevelopment of diseaseVitamin DMean ageRepresentative case historiesBiochemical resolutionDietary practicesRicketsContributory roleMiddle Eastern descentInfants