2022
Hypercalcaemic and Hypocalcaemic Syndromes in Children
Ardeshirpour L, Carpenter T, Robinson C. Hypercalcaemic and Hypocalcaemic Syndromes in Children. 2022, 707-726. DOI: 10.1093/med/9780198870197.003.0087.Peer-Reviewed Original ResearchAge-specific approachesAge-dependent changesCalciotropic hormonesHormonal milieuMineral disordersCorrect diagnosisClinical problemCalcium homeostasisMineral homeostasisRelevant therapiesSerum mineralsMineral accretionRelevant physiologyHeritable disorderSyndromeChildhoodDiagnosisDisordersChildrenHomeostasisMineral requirementsEarly stagesHypercalcaemiaHypocalcaemiaTherapy
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
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
2011
A clinician's guide to X‐linked hypophosphatemia
Carpenter TO, Imel EA, Holm IA, de Beur S, Insogna KL. A clinician's guide to X‐linked hypophosphatemia. Journal Of Bone And Mineral Research 2011, 26: 1381-1388. PMID: 21538511, PMCID: PMC3157040, DOI: 10.1002/jbmr.340.BooksConceptsTreatment guidelinesRenal phosphate wastingPathophysiologic featuresPrototypic disorderPhosphate wastingClinician's GuideMissed diagnosisSupport groupsConference recommendationsCommon formComplex disorderDearth of informationHypophosphatemiaDisordersGuidelinesPatientsScientific conferencesRicketsCliniciansDiseasePhysiciansDiagnosisWasting
1999
Evaluation and Treatment of Heritable Forms of Rickets
Levine B, Carpenter T. Evaluation and Treatment of Heritable Forms of Rickets. The Endocrinologist 1999, 9: 358-365. DOI: 10.1097/00019616-199909000-00006.Peer-Reviewed Original ResearchHereditary ricketsOverall treatment strategySpecific therapeutic guidelinesTherapeutic guidelinesPrimary derangementRadiographic featuresTreatment strategiesCorrect diagnosisSkeletal diseaseRicketsRachitic diseaseHeritable formDiseaseChildrenDisorder resultsHypophosphatemiaMajor formDerangementDiagnosis