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
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
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