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
1994
Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia
Carpenter TO, Mitnick MA, Ellison A, Smith C, Insogna KL. Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 1994, 78: 1378-1383. PMID: 8200940, DOI: 10.1210/jcem.78.6.8200940.Peer-Reviewed Original ResearchConceptsHypophosphatemic ricketsFrequency of hyperparathyroidismMean iPTH valueNephrogenous cAMP excretionPathogenesis of nephrocalcinosisInitiation of therapyVitamin D preparationsGroup of patientsOnset of treatmentExaggerated secretionParathyroid statusIPTH valuesTertiary hyperparathyroidismParathyroid functionUntreated patientsOccasional complicationCAMP excretionHyperparathyroidismPhosphopenic ricketsD preparationsPatientsControl individualsRicketsIntact hormoneNocturnal rise
1981
Impaired response to acute phosphorus (P) deprivation in familial hypophosphatemic rickets (HR)
Gertner J, Insogna K. Impaired response to acute phosphorus (P) deprivation in familial hypophosphatemic rickets (HR). Pediatric Research 1981, 15: 1542-1542. DOI: 10.1203/00006450-198112000-00045.Peer-Reviewed Original Research