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
1986
Primary hyperparathyroidism in a dog: biochemical, bone histomorphometric, and pathologic findings.
Weir EC, Norrdin RW, Barthold SW, Meuten DJ, Pond MJ, Insogna KL. Primary hyperparathyroidism in a dog: biochemical, bone histomorphometric, and pathologic findings. Journal Of The American Veterinary Medical Association 1986, 189: 1471-4. PMID: 3804843, DOI: 10.2460/javma.1986.189.11.1471.Peer-Reviewed Original ResearchConceptsPrimary hyperparathyroidismEighth postoperative dayBlood biochemical findingsParathyroid gland adenomaIliac crest biopsiesBone histomorphometricRenal failurePostoperative daySurgical explorationPathologic findingsHistologic diagnosisClinical signsOval massCrest biopsiesGland adenomaBlunt dissectionClearance studiesBiochemical findingsHyperparathyroidismHistomorphometric analysisDiagnosisDogsTrabecular boneVeterinary cliniciansBone
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