2016
An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis
Peter P, Brownstein C, Yao G, Olear E, Simpson C, Agrawal P, Carpenter T, Insogna K. An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis. AACE Clinical Case Reports 2016, 2: ee278-ee283. DOI: 10.4158/ep15944.cr.Peer-Reviewed Original ResearchWhole-exome sequencingForms of ricketsExome sequencingGrowth factor 23Classic clinical featuresClinical suspicionClinical featuresClinical presentationFactor 23Parathyroid hormoneDihydroxyvitamin D3Correct diagnosisMistaken diagnosisUnusual caseNutritional deficienciesRicketsPatientsDiagnosisDiseaseHypophosphatemiaGenetic defectsCompound heterozygotesCYP27B1Gene sequencing technologyXLH
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
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