2019
Relationship of Total and Free 25-Hydroxyvitamin D to Biomarkers and Metabolic Indices in Healthy Children
Simpson CA, Zhang JH, Vanderschueren D, Fu L, Pennestri TC, Bouillon R, Cole DEC, Carpenter TO. Relationship of Total and Free 25-Hydroxyvitamin D to Biomarkers and Metabolic Indices in Healthy Children. The Journal Of Clinical Endocrinology & Metabolism 2019, 105: dgz230. PMID: 31774125, PMCID: PMC7174047, DOI: 10.1210/clinem/dgz230.Peer-Reviewed Original ResearchConceptsBody mass indexVitamin D statusParathyroid hormoneUrban-dwelling childrenD statusGC haplotypeHomeostatic model assessmentSystolic blood pressureAcademic medical centerHeathy childrenBlood pressureClinical outcomesMass indexInsulin resistanceHealthy childrenMedical CenterMetabolic indicesModel assessmentRegistration noOutcome variablesHispanic backgroundChildrenStrongest correlateInsulinAvailable assessmentsHigh dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in female rats
Niu A, Carpenter TO, Grams JM, Bozorgmehri S, Tommasini SM, Schafer AL, Canales BK. High dose vitamin D supplementation does not rescue bone loss following Roux-en-Y gastric bypass in female rats. Bone 2019, 127: 172-180. PMID: 31226531, PMCID: PMC6708762, DOI: 10.1016/j.bone.2019.06.015.Peer-Reviewed Original ResearchConceptsCalcium/creatinine ratioVitamin D supplementationSecondary hyperparathyroidismBone lossD supplementationGastric bypassGut hormonesRYGB groupParathyroid hormoneFracture riskFemale ratsUrine calcium/creatinine ratioBone volumeUrinary calcium/creatinine ratioHigh-dose vitamin D supplementationAdequate vitamin D supplementationC-terminal telopeptide (CTX) levelsHigher serum parathyroid hormoneIU vitamin D supplementationIU vitamin D/Bone phenotypeDose vitamin D supplementationResultant secondary hyperparathyroidismVitamin D/Serum parathyroid hormone
2018
A Randomized, Double‐Blind, Placebo‐Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti‐FGF23 Antibody, in Adults With X‐Linked Hypophosphatemia: Week 24 Primary Analysis
Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont P, Cheong HI, de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L, Chen C, Theodore‐Oklota C, Mealiffe M, San Martin J, Carpenter TO, Investigators O. A Randomized, Double‐Blind, Placebo‐Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti‐FGF23 Antibody, in Adults With X‐Linked Hypophosphatemia: Week 24 Primary Analysis. Journal Of Bone And Mineral Research 2018, 33: 1383-1393. PMID: 29947083, DOI: 10.1002/jbmr.3475.Peer-Reviewed Original ResearchConceptsTreatment-related serious adverse eventsMean serum phosphate concentrationWOMAC physical function subscaleFibroblast growth factor 23Intact parathyroid hormoneSerious adverse eventsPhase 3 trialPhysical function subscaleChronic musculoskeletal painGrowth factor 23Serum phosphate concentrationRenal phosphate wastingHuman monoclonal antibodyLower limb deformitiesImportant medical needStiffness subscalePlacebo groupUrine calciumWorst painAdverse eventsWeek 24Dental abscessMusculoskeletal painFactor 23Function subscale
2017
Rickets
Carpenter TO, Shaw NJ, Portale AA, Ward LM, Abrams SA, Pettifor JM. Rickets. Nature Reviews Disease Primers 2017, 3: 17101. PMID: 29265106, DOI: 10.1038/nrdp.2017.101.Peer-Reviewed Original ResearchConceptsVitamin D metabolismNutritional ricketsD metabolismVitamin DFibroblast growth factor 23 productionAbnormal serum calciumActivated vitamin DOral phosphate supplementationVitamin D supplementationRenal phosphate handlingVitamin D metabolitesAge of onsetDarker skin typesD supplementationFGF23 antibodyClinical presentationSerum calciumPhysical examinationD metabolitesMedical historyPhosphate handlingBone diseasePhosphopenic ricketsPhosphate supplementationConventional treatmentUnexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children
Ballesteros L, S. N, Gordon RJ, Ward L, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Gagne J, Stein R, Cody D, Simmons K, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth R, Imel EA, Casey L, Carpenter TO. Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children. Bone 2017, 97: 287-292. PMID: 28167344, PMCID: PMC5884631, DOI: 10.1016/j.bone.2017.02.003.Peer-Reviewed Original ResearchConceptsElemental formula useFormula useSkeletal diseaseRetrospective chart reviewInadequate dietary intakeCertain clinical settingsFormula productsEffect of treatmentSevere malabsorptionChart reviewSevere hypocalcemiaClinical featuresClinical profileRenal excretionDietary intakeCommon findingMineral metabolismBone diseaseHypophosphatemiaPhosphate supplementationSkeletal radiographsCareful monitoringComplex illnessRenal conservationClinical settingCYP24A1 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
2014
Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia
Carpenter TO, Imel EA, Ruppe MD, Weber TJ, Klausner MA, Wooddell MM, Kawakami T, Ito T, Zhang X, Humphrey J, Insogna KL, Peacock M. Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. Journal Of Clinical Investigation 2014, 124: 1587-1597. PMID: 24569459, PMCID: PMC3973088, DOI: 10.1172/jci72829.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAntibodies, MonoclonalAntibodies, Monoclonal, HumanizedCalciumFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGlomerular Filtration RateHalf-LifeHumansInjections, IntravenousInjections, SubcutaneousKidney TubulesMaleMiddle AgedPhosphatesVitamin DYoung AdultConceptsTmP/GFRSerum PiParathyroid hormonePhosphate reabsorptionXLH patientsRenal tubular thresholdSerum parathyroid hormoneFavorable safety profileElevated serum FGF23Renal phosphate reabsorptionLow serum concentrationsPhosphate-regulating endopeptidaseSerum Pi concentrationFGF23 antibodySerum FGF23Dihydroxyvitamin DSafety profileTubular thresholdSingle doseSerum concentrationsKRN23Mean t1/2Potential treatmentPatientsEffect durationGastric bypass in obese rats causes bone loss, vitamin D deficiency, metabolic acidosis, and elevated peptide YY
Canales BK, Schafer AL, Shoback DM, Carpenter TO. Gastric bypass in obese rats causes bone loss, vitamin D deficiency, metabolic acidosis, and elevated peptide YY. Surgery For Obesity And Related Diseases 2014, 10: 878-884. PMID: 24969093, PMCID: PMC4113565, DOI: 10.1016/j.soard.2014.01.021.Peer-Reviewed Original ResearchConceptsBone turnover markersDiet-induced obeseWeeks of ageSham surgeryBone lossPeptide YYRYGB animalsBone volumeHigher serum parathyroid hormoneLower trabecular bone volumeMale Sprague-Dawley ratsBone mass differencesElevated peptide YYHigher serum CTXVitamin D malabsorptionSerum parathyroid hormoneGastric bypass surgeryLow serum bicarbonateVitamin D deficiencyNormal calcium dietCortical bone volumeSham control ratsTrabecular bone volumeSprague-Dawley ratsMetabolic bone disease
2012
Hypercalcemia in Children Receiving Pharmacologic Doses of Vitamin D
Vanstone MB, Oberfield SE, Shader L, Ardeshirpour L, Carpenter TO. Hypercalcemia in Children Receiving Pharmacologic Doses of Vitamin D. Pediatrics 2012, 129: e1060-e1063. PMID: 22412034, PMCID: PMC8194455, DOI: 10.1542/peds.2011-1663.Peer-Reviewed Original ResearchConceptsVitamin DSerum calciumPeak serum calciumResolution of hypercalcemiaWide dosing rangeElevated serum calciumVitamin D deficiencyAge-specific guidelinesAge 2 weeksAdministration of dosagesDaily dietary intakeD deficiencyDeficient ricketsPharmacologic dosesTreatment regimensD levelsHypervitaminosis DDietary intakeDosage recommendationsDose selectionDosing rangeGeneral populationPharmacologic dosingHypercalcemiaSmall children
2011
Demographic, dietary, and biochemical determinants of vitamin D status in inner-city children
Carpenter TO, Herreros F, Zhang JH, Ellis BK, Simpson C, Torrealba-Fox E, Kim GJ, Savoye M, Held NA, Cole D. Demographic, dietary, and biochemical determinants of vitamin D status in inner-city children. American Journal Of Clinical Nutrition 2011, 95: 137-146. PMID: 22170368, PMCID: PMC3238457, DOI: 10.3945/ajcn.111.018721.Peer-Reviewed Original ResearchConceptsParathyroid hormonePmol/LMinority infantsFormula useMeasurement of PTHSkin typeOlder childrenVitamin D insufficientVitamin D intakeVitamin D statusVitamin D fortificationAlkaline phosphatase activityDietary intake dataInner-city childrenClinical ricketsD intakeD statusSerum calciumDihydroxyvitamin DVitamin DD fortificationBlood samplesIntake dataReference rangeTotal alkaline phosphatase activityGenetic 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
2009
Increased Bone Volume and Correction of HYP Mouse Hypophosphatemia in the Klotho/HYP Mouse
Brownstein CA, Zhang J, Stillman A, Ellis B, Troiano N, Adams DJ, Gundberg CM, Lifton RP, Carpenter TO. Increased Bone Volume and Correction of HYP Mouse Hypophosphatemia in the Klotho/HYP Mouse. Endocrinology 2009, 151: 492-501. PMID: 19952276, PMCID: PMC2817612, DOI: 10.1210/en.2009-0564.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCalciumCrosses, GeneticDNA PrimersDNA-Binding ProteinsFamilial Hypophosphatemic RicketsFemaleFemurFibroblast Growth Factor-23Genetic Diseases, X-LinkedGenotypeGlucuronidaseHeterozygoteHomozygoteHumansKlotho ProteinsMaleMiceMice, KnockoutNuclear ProteinsPolymerase Chain ReactionTibiaTomography, X-Ray ComputedTranscription FactorsConceptsTrabecular bone densityHyp miceBone densityGreater trabecular bone volume fractionFibroblast growth factor 23Serum PTH levelsDihydroxyvitamin D levelsGrowth factor 23Vitamin D metabolismTrabecular bone volume fractionDouble knockout miceKlotho null miceFGF23 effectsKlotho lossPhosphaturic activityPTH levelsFGF23 actionFGF23 levelsBone volume fractionFactor 23D metabolismD levelsFGF receptor 1Osteoid volumeBone volume
2007
Evaluation of bone and mineral disorders.
Ardeshirpour L, Cole DE, Carpenter TO. Evaluation of bone and mineral disorders. Pediatric Endocrinology Reviews : PER 2007, 5 Suppl 1: 584-98. PMID: 18167468.Peer-Reviewed Original ResearchConceptsParathyroid hormoneVitamin D homeostasisVitamin D metabolitesEvaluation of boneD homeostasisD metabolitesMineral disordersDiagnostic modalitiesHormonal imbalanceMetabolic diseasesDiagnostic acumenGenetic testingHereditary disorderSkeletal systemHormoneDisordersDiagnostic capabilitiesBoneConcise reviewCalciumWidespread useDiseaseImpairment
2005
Relationships among Vitamin D Levels, Parathyroid Hormone, and Calcium Absorption in Young Adolescents
Abrams SA, Griffin IJ, Hawthorne KM, Gunn SK, Gundberg CM, Carpenter TO. Relationships among Vitamin D Levels, Parathyroid Hormone, and Calcium Absorption in Young Adolescents. The Journal Of Clinical Endocrinology & Metabolism 2005, 90: 5576-5581. PMID: 16076940, PMCID: PMC1283091, DOI: 10.1210/jc.2005-1021.Peer-Reviewed Original ResearchConceptsVitamin D statusCalcium absorptionD statusDihydroxyvitamin DVitamin D insufficiencyVitamin D levelsBone mineral densityCalcium absorption fractionYr of ageEffects of prebioticsD insufficiencySerum PTHPTH secretionD calciumParathyroid hormoneD levelsPediatric dataMineral densityMidpubertal boysYoung adolescentsPTHBone formationWhole bodyHigh rateAdolescentsHypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes
Sabbagh Y, Carpenter TO, Demay MB. Hypophosphatemia leads to rickets by impairing caspase-mediated apoptosis of hypertrophic chondrocytes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 9637-9642. PMID: 15976027, PMCID: PMC1172249, DOI: 10.1073/pnas.0502249102.Peer-Reviewed Original ResearchConceptsParathyroid hormone levelsMineral ion homeostasisRachitic changesHormone levelsAbnormal mineral ion homeostasisDihydroxyvitamin D levelsVitamin D deficiencyDegree of hypophosphatemiaHypertrophic chondrocyte layerVitamin D receptorHypertrophic chondrocytesNormal phosphorus levelsGrowth plate maturationD deficiencyD levelsNormal calciumD receptorChondrocyte layerHypophosphatemiaVDR actionChondrocyte apoptosisNull miceRicketsCaspase-mediated apoptosisHypercalcemia
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
1995
Media Calcium Attenuates Mitochondrial 1,25(OH)2D Production in Phosphorus or Vitamin D-Deprived Rats
Carpenter T, Ellis B. Media Calcium Attenuates Mitochondrial 1,25(OH)2D Production in Phosphorus or Vitamin D-Deprived Rats. Pediatric Research 1995, 37: 726-730. PMID: 7544454, DOI: 10.1203/00006450-199506000-00009.Peer-Reviewed Original ResearchConceptsVitamin D deprivationLow phosphorus dietVitamin DPhosphorus dietPrimary physiologic regulatorCalcium effectDeficient dietLong-term exposureCalcium modulatesMedium calciumPhysiologic regulatorRatsControl dietMarked inhibitionEffect of calciumStimulatory responseRenal mitochondriaExtramitochondrial calciumDietWkBasal activityPTHTerm exposureCalciumDeprivation
1990
Vitamin D metabolism in chronic childhood hypoparathyroidism: Evidence for a direct regulatory effect of calcium
Carpenter T, Insogna K, Boulware S, Mitnick M. Vitamin D metabolism in chronic childhood hypoparathyroidism: Evidence for a direct regulatory effect of calcium. The Journal Of Pediatrics 1990, 116: 252-257. PMID: 2299496, DOI: 10.1016/s0022-3476(05)82883-5.Peer-Reviewed Original Research
1989
Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria.
Chen C, Carpenter T, Steg N, Baron R, Anast C. Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria. Pediatrics 1989, 84: 276-80. PMID: 2787497, DOI: 10.1542/peds.84.2.276.Peer-Reviewed Original ResearchConceptsYears of ageHypophosphatemic ricketsDihydroxyvitamin DVitamin DHigh-dose vitamin DUrinary phosphorus excretionUrinary calcium excretionNormal serum calciumParathyroid hormone concentrationsPhosphorus therapyCalcium excretionSymptomatic nephrolithiasisAppropriate therapySerum calciumAlkaline phosphatase activitySevere ricketsBone histomorphometryHormone concentrationsIntestinal absorptionTherapeutic implicationsCardinal featuresRicketsModest dosageHypercalciuriaHypophosphatemia
1983
Hypoparathyroidism in Wilson's Disease
Carpenter T, Carnes D, Anast C. Hypoparathyroidism in Wilson's Disease. New England Journal Of Medicine 1983, 309: 873-877. PMID: 6888480, DOI: 10.1056/nejm198310133091501.Peer-Reviewed Original ResearchConceptsWilson's diseaseImmunoreactive parathyroid hormoneInfusion of magnesiumParathyroid insufficiencyParathyroid levelsParathyroid secretionMild hypocalcemiaParathyroid hormoneBlood levelsCitrate infusionParathyroid glandsFanconi syndromeCalcium levelsAppropriate riseNormal levelsDiseaseHypercalciuriaHyperphosphaturiaInfusionRapid reductionCalciumHypoparathyroidismHypocalcemiaHypophosphatemia