2020
Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation
Eswarakumar AS, S. N, Ward LM, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Imel EA, Gagne J, Cody D, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth RS, Gordon R, Casey L, Carpenter TO. Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation. Clinical Pediatrics 2020, 59: 1080-1085. PMID: 32666808, DOI: 10.1177/0009922820941097.Peer-Reviewed Original ResearchConceptsElemental formula useBone diseaseFormula useHypophosphatemic bone diseaseTerm Follow-upLong-term outcomesSerum phosphorus concentrationSerum alkaline phosphatase activitySerum alkaline phosphataseSeverity/durationTime of correctionChart reviewSerum phosphorusDisease AssociatedFollow-upPhosphate supplementationExtent of recoveryDiseaseDiagnosisFormula changesRadiology reportsSupplementationAlkaline phosphataseAlkaline phosphatase activityReport
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 assessmentsEfficacy and safety of burosumab in children aged 1–4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial
Whyte MP, Carpenter TO, Gottesman GS, Mao M, Skrinar A, San Martin J, Imel EA. Efficacy and safety of burosumab in children aged 1–4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial. The Lancet Diabetes & Endocrinology 2019, 7: 189-199. PMID: 30638856, DOI: 10.1016/s2213-8587(18)30338-3.Peer-Reviewed Original ResearchConceptsSerum phosphorus concentrationPhase 2 trialWeeks of treatmentAdverse eventsWeek 40Week 64Serum phosphorusPhosphatonin fibroblast growth factor 23Treatment-related adverse eventsFibroblast growth factor 23History of toothRickets Severity ScoreSafety of burosumabSerious adverse eventsInjection site reactionsKey secondary outcomesFavorable safety profileGrowth factor 23Severe food allergyHeight z-scoreKey inclusion criteriaRenal phosphate wastingHuman monoclonal antibodyRadiographic Global ImpressionYoung children
2017
Unexpected 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 setting
2016
Characterization of additional vitamin D binding protein variants
Fu L, Borges CR, Rehder DS, Wong BY, Williams R, Carpenter TO, Cole DE. Characterization of additional vitamin D binding protein variants. The Journal Of Steroid Biochemistry And Molecular Biology 2016, 159: 54-59. PMID: 26924582, DOI: 10.1016/j.jsbmb.2016.02.022.Peer-Reviewed Original ResearchConceptsMutant proteinsProtein variantsAdditional mutant proteinsSignificant genetic variationWild-type proteinExon/intron boundariesMolecular screeningEarlier biochemical studiesLow-frequency variantsGenomic DNA samplesS-cysteinylationGenetic variationGC mutationsMass spectrometric methodMass spectrometry methodIntron boundariesBinding proteinHigh-performance liquid chromatographyBiochemical studiesDisulfide bondsDisulfide speciesCodon 246Genetic variantsProteinSpecific mutations
2014
Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis. Journal Of The American Society Of Nephrology 2014, 25: 2366-2375. PMID: 24700880, PMCID: PMC4178443, DOI: 10.1681/asn.2013101085.Peer-Reviewed Original ResearchConceptsIdiopathic hypercalciuriaDecreased tubular reabsorption of phosphateIncreased risk of kidney stone formationSerum 1,25(OH)2 vitamin DTubular reabsorption of phosphateAssociated with kidney stonesVitamin D levelsSolute carrier family 34Renal phosphate wastingDecreased serum phosphateHereditary hypophosphatemic ricketsHealthy family membersReabsorption of phosphateRisk of kidney stone formationRickets/osteomalaciaDecreased tubular reabsorptionKidney stone formationSLC34A3 mutationsIndependent of genotypeMedullary nephrocalcinosisSerum phosphateVitamin DDependent phosphate cotransporterTubular reabsorptionD levels
2012
Vitamin D binding protein is a key determinant of 25‐hydroxyvitamin D levels in infants and toddlers
Carpenter TO, Zhang JH, Parra E, Ellis BK, Simpson C, Lee WM, Balko J, Fu L, Wong B, Cole D. Vitamin D binding protein is a key determinant of 25‐hydroxyvitamin D levels in infants and toddlers. Journal Of Bone And Mineral Research 2012, 28: 213-221. PMID: 22887780, PMCID: PMC3511814, DOI: 10.1002/jbmr.1735.Peer-Reviewed Original ResearchConceptsD binding proteinGC single nucleotide polymorphismsVitamin D binding proteinSingle nucleotide polymorphismsD levelsVitamin D deficiencyVitamin D statusSerum DBP levelsAfrican AmericansD deficiencyD statusCommon single nucleotide polymorphismsNutritional determinantsGC genotypeLarge cohortAIM scoresMultivariate analysisDBP levelsHypercalcemia 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 childrenEffects of ethnicity and vitamin D supplementation on vitamin D status and changes in bone mineral content in infants
Abrams SA, Hawthorne KM, Rogers SP, Hicks PD, Carpenter TO. Effects of ethnicity and vitamin D supplementation on vitamin D status and changes in bone mineral content in infants. BMC Pediatrics 2012, 12: 6. PMID: 22248486, PMCID: PMC3271033, DOI: 10.1186/1471-2431-12-6.Peer-Reviewed Original ResearchConceptsBone mineral contentBone mineral densityVitamin D supplementationD supplementationVitamin DHispanic infantsDaily vitamin D intakeCaucasian infantsIU/dayVitamin D intakeVitamin D3 supplementationVitamin D statusMonths of lifeNon-Hispanic CaucasiansD intakeD statusD3 supplementationSupplementation interventionsBone healthCord serumMineral densityInfantsFirst monthFirst weekBone mineralization
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
2010
Treatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 Concentrations
Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ. Treatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 Concentrations. The Journal Of Clinical Endocrinology & Metabolism 2010, 95: 1846-1850. PMID: 20157195, PMCID: PMC2853995, DOI: 10.1210/jc.2009-1671.Peer-Reviewed Original ResearchConceptsFGF23 concentrationsXLH patientsFibroblast growth factor 23 concentrationsGrowth factor 23 concentrationsFibroblast Growth Factor 23 ExpressionComplications of therapyDihydroxyvitamin D concentrationsProspective observational studyTertiary referral centerIntact FGF23 concentrationsRoutine clinical managementOral calcitriolReferral centerClinical managementFGF23 elevationObservational studyTherapeutic effectRenal phosphateCalcitriolD concentrationsDisease severityNormal serumVivo modelTherapyMost subjects
2008
A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism
Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP. A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 3455-3460. PMID: 18308935, PMCID: PMC2265125, DOI: 10.1073/pnas.0712361105.Peer-Reviewed Original ResearchConceptsHypophosphatemic ricketsAlpha-KlothoExcessive renal lossPhosphate levelsParathyroid massRenal failureRenal osteodystrophyFGF23 levelsMajor complicationsParathyroid hyperplasiaKidney failureRenal lossBeta-glucuronidase activityNormal responseHyperparathyroidismEnergy homeostasisRicketsBone formationSkeletal abnormalitiesPhysiologic processesPhosphate homeostasisHyperphosphatemiaPatientsHyperplasiaBone defects
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
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
1987
Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: A newly recognized type of osteogenesis imperfecta
Cole E, Carpenter T. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: A newly recognized type of osteogenesis imperfecta. The Journal Of Pediatrics 1987, 110: 76-80. PMID: 3794889, DOI: 10.1016/s0022-3476(87)80292-5.Peer-Reviewed Original ResearchConceptsDistinctive facial featuresOsteogenesis imperfectaOcular proptosisMultiple compression fracturesWeight-bearing bonesDistinctive dysmorphic featuresBone biopsyCompression fracturesNew bone formationBone resorptionDiaphyseal fracturesBone fragilityBone deformitiesBone volumeExtensive demineralizationNew casesDysmorphic featuresFirst birthdayHydrocephalusBone formationLong bonesProptosisMultiple fracturesImperfectaFurther elucidation
1986
Hereditary xanthinuria presenting in infancy with nephrolithiasis
Carpenter T, Lebowitz R, Nelson D, Bauer S. Hereditary xanthinuria presenting in infancy with nephrolithiasis. The Journal Of Pediatrics 1986, 109: 307-309. PMID: 3755469, DOI: 10.1016/s0022-3476(86)80391-2.Peer-Reviewed Original ResearchProgressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities
Harris H, Carpenter T, Shanley P, Rosen S, Levey R, Harmon W. Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities. The American Journal Of Medicine 1986, 81: 169-176. PMID: 3524222, DOI: 10.1016/0002-9343(86)90205-6.Peer-Reviewed Original ResearchConceptsHepatic abnormalitiesInfantile polycystic kidney diseaseSignificant renal insufficiencyTubulointerstitial renal diseaseBile duct proliferationProgressive renal failurePolycystic kidney diseaseRenal Fanconi syndromeRenal insufficiencyRenal transplantTubulointerstitial injuryPortal fibrosisRenal failureRenal diseaseDuct proliferationClinical evidenceFat malabsorptionRenal lesionsKidney diseaseHepatic fibrosisMale infantRenal disordersFanconi syndromeMorphologic featuresDiagnostic categories
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