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
1989
Mineral regulation of vitamin D metabolism
Carpenter T. Mineral regulation of vitamin D metabolism. Bone And Mineral 1989, 5: 259-269. PMID: 2655775, DOI: 10.1016/0169-6009(89)90004-4.Peer-Reviewed Original ResearchConceptsVitamin D metabolismD metabolismVitamin D deficiencyForms of ricketsD deficiencyVitamin DRenal activityVivo effectsHomeostatic roleIntestinal transportRachitic deformitiesActive metaboliteMineral homeostasisClinical researchMagnesium deficiencyCalcium transportConcentration of calciumMetabolismPediatrician's interestPresent dataStimulationCalciumPhosphorus regulationDeficiencyLesser extent