2020
OR29-01 Long-Term Safety in Adults with X-Linked Hypophosphatemia (XLH) Treated with Burosumab, a Fully Human Monoclonal Antibody Against FGF23: Final Results of a Phase 3 Trial
Perwad F, Portale A, Carpenter T, Briot K, Imel E, Kamenicky P, Weber T, Pitukcheewanont P, Cheong H, De Beur S, Imanishi Y, Ito N, Lachmann R, Tanaka H, Zhang L, Skrinar A, Rees L, Insogna K. OR29-01 Long-Term Safety in Adults with X-Linked Hypophosphatemia (XLH) Treated with Burosumab, a Fully Human Monoclonal Antibody Against FGF23: Final Results of a Phase 3 Trial. Journal Of The Endocrine Society 2020, 4: or29-01. PMCID: PMC7209551, DOI: 10.1210/jendso/bvaa046.147.Peer-Reviewed Original ResearchYears of ageSerum phosphorusWeek 96Dose reductionLong-term safety resultsTreatment-emergent adverse eventsMonoclonal antibodiesBaseline serum phosphorusHuman IgG1 monoclonal antibodyMean iPTH levelPhase 3 trialLong-term safetyHuman monoclonal antibodyConditional marketing authorizationMonths of ageIgG1 monoclonal antibodyIPTH levelsPlacebo groupAdverse eventsTreatment withdrawalWeek 24Radiographic evidenceMulticenter studyBurosumab treatmentMild hyperphosphatemia
2013
Heart Failure in Hypophosphatemic Rickets: Complications from High-Dose Phosphate Therapy
Sun GE, Suer O, Carpenter TO, Tan CD, Li-Ng M. Heart Failure in Hypophosphatemic Rickets: Complications from High-Dose Phosphate Therapy. Endocrine Practice 2013, 19: e8-e11. PMID: 23186962, DOI: 10.4158/ep12184.cr.Peer-Reviewed Original ResearchConceptsYears of ageHypophosphatemic ricketsPhosphate therapyTertiary hyperparathyroidismHeart failureCardiac calcificationSevere calcific coronary artery diseaseCalcific coronary artery diseaseAortic valve replacementCoronary artery calcificationCongestive heart failureCoronary artery diseaseManagement of patientsHeart valve calcificationImplantable cardioverter defibrillatorPathophysiology of calcificationCalcitriol useCardiac complicationsArtery calcificationRenal failureValve replacementArtery diseaseClinical courseAppropriate therapyHeart block
2004
Multisystem study of 20 older adults with Williams syndrome
Cherniske EM, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, Schultz RT, Pober BR. Multisystem study of 20 older adults with Williams syndrome. American Journal Of Medical Genetics Part A 2004, 131A: 255-264. PMID: 15534874, DOI: 10.1002/ajmg.a.30400.Peer-Reviewed Original ResearchConceptsStandard oral glucose tolerance testingOral glucose tolerance testingNatural historyLong-term natural historyHigh-frequency sensorineural hearing lossFrequency sensorineural hearing lossOlder adultsAbnormal body habitusWilliams syndromeAbnormal glucose toleranceGlucose tolerance testingBone mineral densitySensorineural hearing lossMultiple organ systemsBrain MRI scansYears of ageDiverticular diseaseGastrointestinal symptomsSubclinical hypothyroidismGlucose toleranceMultimodal therapyDEXA scanningBody habitusMineral densityCardiovascular disease
2000
Phosphaturic Mesenchymal Tumor-Induced Rickets
Reyes-Múgica M, Arnsmeier S, Backeljauw P, Persing J, Ellis B, Carpenter T. Phosphaturic Mesenchymal Tumor-Induced Rickets. Pediatric And Developmental Pathology 2000, 3: 61-69. PMID: 10594133, DOI: 10.1007/s100249910008.Peer-Reviewed Original ResearchConceptsPhosphaturic mesenchymal tumorYears of ageMesenchymal tumorsComputerized tomographyMixed connective tissue variantConnective tissue variantLower extremity painPoor linear growthRight proximal tibiaSpindle cell neoplasmFibroma-like variantLeft mandibular ramusBone painOncogenic ricketsRachitic abnormalitiesLytic lesionsRadiographic evidenceSecond patientFirst patientMuscle weaknessOccult tumorsPatient 1Prominent vascularityChondroid materialFibroblast-like cells
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
1987
BONE FRAGILITY, CRANIOSYNOSTOSIS, HYDROCEPHALUS AND OCULAR PROPTOSIS: FURTHER OBSERVATIONS ON A NEWLY RECOGNIZED TYPE OF OSTEOGENESIS IMPERFECTA (OI)
Cole D, Carpenter T. BONE FRAGILITY, CRANIOSYNOSTOSIS, HYDROCEPHALUS AND OCULAR PROPTOSIS: FURTHER OBSERVATIONS ON A NEWLY RECOGNIZED TYPE OF OSTEOGENESIS IMPERFECTA (OI). Pediatric Research 1987, 21: 226-226. DOI: 10.1203/00006450-198704010-00360.Peer-Reviewed Original ResearchOcular proptosisOsteogenesis imperfectaPoor wound healingConnective tissue involvementYears of ageMonths of ageRecognized typesClinical featuresCompression fracturesEasy bruisingNew bone formationBone resorptionDiaphyseal fracturesTissue involvementBony deformityBone fragilityBlue scleraeBone deformitiesSimilar facial featuresJoint laxityBone volumeExtensive demineralizationUnrelated infantsHigh-pitched voiceNew cases
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