2015
A Practical Clinical Approach to Paediatric Phosphate Disorders
Imel EA, Carpenter TO. A Practical Clinical Approach to Paediatric Phosphate Disorders. Endocrine Development 2015, 28: 134-161. PMID: 26138840, DOI: 10.1159/000381036.Peer-Reviewed Original ResearchConceptsPhosphate disordersPractical clinical approachChronic clinical conditionsPhosphate metabolismChronic hypophosphataemiaPhosphate abnormalitiesAppropriate therapyChronic disordersPathophysiologic assessmentClinical conditionsClinical approachPhosphate physiologyCareful evaluationHyperphosphataemiaHypophosphataemiaDisordersMetabolismPatientsTherapyEtiologyAbnormalitiesDisease
2010
Rapid Correction of Bone Mass after Parathyroidectomy in an Adolescent with Primary Hyperparathyroidism
Vanstone MB, Udelsman RD, Cheng DW, Carpenter TO. Rapid Correction of Bone Mass after Parathyroidectomy in an Adolescent with Primary Hyperparathyroidism. The Journal Of Clinical Endocrinology & Metabolism 2010, 96: e347-e350. PMID: 21106715, DOI: 10.1210/jc.2010-1723.Peer-Reviewed Original ResearchMeSH Keywords25-Hydroxyvitamin D 2Absorptiometry, PhotonAdenomaAdolescentBone and BonesBone DensityHumansHydronephrosisHyperparathyroidism, PrimaryKidneyKidney CalculiLithotripsyMalePainParathyroid NeoplasmsParathyroidectomyRadionuclide ImagingRadiopharmaceuticalsSpineTechnetium Tc 99m SestamibiTrabecular MeshworkUltrasonographyConceptsBone mineral densityPrimary hyperparathyroidismMineral densityElevated parathyroid hormone levelsLarge tertiary care centerDual-energy X-ray absorptiometryBiochemical evaluationEnergy X-ray absorptiometryDual-phase technetiumRight foot painParathyroid hormone levelsTertiary care centerDiagnosis of hyperparathyroidismTime of diagnosisMain outcome measurementsX-ray absorptiometryBone mineral contentFlank painFoot painGross hematuriaRenal ultrasonographyVague symptomatologyMale presentingThyroid bedOsteoporotic fractures
2009
Nuclear Isoforms of Fibroblast Growth Factor 2 Are Novel Inducers of Hypophosphatemia via Modulation of FGF23 and KLOTHO*
Xiao L, Naganawa T, Lorenzo J, Carpenter TO, Coffin JD, Hurley MM. Nuclear Isoforms of Fibroblast Growth Factor 2 Are Novel Inducers of Hypophosphatemia via Modulation of FGF23 and KLOTHO*. Journal Of Biological Chemistry 2009, 285: 2834-2846. PMID: 19933269, PMCID: PMC2807337, DOI: 10.1074/jbc.m109.030577.Peer-Reviewed Original ResearchAbsorptiometry, PhotonAnimalsCell NucleusFibroblast Growth Factor 2Fibroblast Growth Factor-23Fibroblast Growth FactorsGlucuronidaseHomeostasisHumansHypophosphatemiaIsomerismKidneyKlotho ProteinsMaleMiceMice, TransgenicMolecular WeightOsteoblastsOsteomalaciaPhenotypePhosphatesPromoter Regions, GeneticSkullSodium-Phosphate Cotransporter Proteins, Type IIaX-Ray Microtomography
2008
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc
Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. American Journal Of Physiology. Renal Physiology 2008, 295: f371-f379. PMID: 18480181, PMCID: PMC2519180, DOI: 10.1152/ajprenal.00090.2008.Peer-Reviewed Original ResearchMeSH KeywordsAdultAllelesAnimalsBase SequenceExocytosisFamilial Hypophosphatemic RicketsFemaleHaplotypesHumansHypercalciuriaKidneyMaleMolecular Sequence DataMutation, MissenseOocytesOpossumsPhosphatesPolymorphism, Single NucleotideSodiumSodium-Phosphate Cotransporter ProteinsSodium-Phosphate Cotransporter Proteins, Type IIcThreonineXenopus laevisConceptsEncoding enhanced green fluorescent proteinHereditary hypophosphatemic ricketsNaPi-IIcSodium-phosphate cotransporterLoss of expressionAmino acid residuesSodium-phosphate cotransportGreen fluorescence proteinImportant functional roleComplete lossOpossum kidneyHypophosphatemic ricketsXenopus laevis oocytesNovel missense mutationPaternal alleleWild-typeFunctional analysisFluorescence proteinNH2 terminusAcid residuesApical patchesCompound heterozygous mutationsExpression plasmidFunctional roleRecurrent kidney stones
1986
Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities
Harris H, Carpenter T, Shanley P, Rosen S, Levey R, Harmon W. Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities. The American Journal Of Medicine 1986, 81: 169-176. PMID: 3524222, DOI: 10.1016/0002-9343(86)90205-6.Peer-Reviewed Original ResearchConceptsHepatic abnormalitiesInfantile polycystic kidney diseaseSignificant renal insufficiencyTubulointerstitial renal diseaseBile duct proliferationProgressive renal failurePolycystic kidney diseaseRenal Fanconi syndromeRenal insufficiencyRenal transplantTubulointerstitial injuryPortal fibrosisRenal failureRenal diseaseDuct proliferationClinical evidenceFat malabsorptionRenal lesionsKidney diseaseHepatic fibrosisMale infantRenal disordersFanconi syndromeMorphologic featuresDiagnostic categories