2008
A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism
Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP. A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 3455-3460. PMID: 18308935, PMCID: PMC2265125, DOI: 10.1073/pnas.0712361105.Peer-Reviewed Original ResearchConceptsHypophosphatemic ricketsAlpha-KlothoExcessive renal lossPhosphate levelsParathyroid massRenal failureRenal osteodystrophyFGF23 levelsMajor complicationsParathyroid hyperplasiaKidney failureRenal lossBeta-glucuronidase activityNormal responseHyperparathyroidismEnergy homeostasisRicketsBone formationSkeletal abnormalitiesPhysiologic processesPhosphate homeostasisHyperphosphatemiaPatientsHyperplasiaBone defects
2005
Relationships among Vitamin D Levels, Parathyroid Hormone, and Calcium Absorption in Young Adolescents
Abrams SA, Griffin IJ, Hawthorne KM, Gunn SK, Gundberg CM, Carpenter TO. Relationships among Vitamin D Levels, Parathyroid Hormone, and Calcium Absorption in Young Adolescents. The Journal Of Clinical Endocrinology & Metabolism 2005, 90: 5576-5581. PMID: 16076940, PMCID: PMC1283091, DOI: 10.1210/jc.2005-1021.Peer-Reviewed Original ResearchConceptsVitamin D statusCalcium absorptionD statusDihydroxyvitamin DVitamin D insufficiencyVitamin D levelsBone mineral densityCalcium absorption fractionYr of ageEffects of prebioticsD insufficiencySerum PTHPTH secretionD calciumParathyroid hormoneD levelsPediatric dataMineral densityMidpubertal boysYoung adolescentsPTHBone formationWhole bodyHigh rateAdolescents
1987
Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: A newly recognized type of osteogenesis imperfecta
Cole E, Carpenter T. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: A newly recognized type of osteogenesis imperfecta. The Journal Of Pediatrics 1987, 110: 76-80. PMID: 3794889, DOI: 10.1016/s0022-3476(87)80292-5.Peer-Reviewed Original ResearchConceptsDistinctive facial featuresOsteogenesis imperfectaOcular proptosisMultiple compression fracturesWeight-bearing bonesDistinctive dysmorphic featuresBone biopsyCompression fracturesNew bone formationBone resorptionDiaphyseal fracturesBone fragilityBone deformitiesBone volumeExtensive demineralizationNew casesDysmorphic featuresFirst birthdayHydrocephalusBone formationLong bonesProptosisMultiple fracturesImperfectaFurther elucidation