2022
The efficacy and safety of burosumab in two patients with cutaneous skeletal hypophosphatemia syndrome
Sugarman J, Maruri A, Hamilton D, Tabatabai L, Luca D, Cimms T, Krolczyk S, Roberts M, Carpenter T. The efficacy and safety of burosumab in two patients with cutaneous skeletal hypophosphatemia syndrome. Bone 2022, 166: 116598. PMID: 36341949, DOI: 10.1016/j.bone.2022.116598.Peer-Reviewed Original ResearchConceptsCutaneous skeletal hypophosphatemia syndromeTumor-induced osteomalaciaBurosumab therapyDaily dosesMild injection site reactionsActive vitamin D analoguesExtra-cutaneous manifestationsMore daily dosesMultiple daily dosesSafety of burosumabTreatment of XLHDihydroxyvitamin D levelsInjection site reactionsCurrent treatment optionsLow serum phosphorusPromising therapeutic optionVitamin D analogsHuman monoclonal antibodyOral phosphorusAdult patientsAdverse eventsBone healthSerum phosphorusTherapeutic optionsD levels
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
2000
Phosphaturic Mesenchymal Tumor-Induced Rickets
Reyes-Múgica M, Arnsmeier S, Backeljauw P, Persing J, Ellis B, Carpenter T. Phosphaturic Mesenchymal Tumor-Induced Rickets. Pediatric And Developmental Pathology 2000, 3: 61-69. PMID: 10594133, DOI: 10.1007/s100249910008.Peer-Reviewed Original ResearchConceptsPhosphaturic mesenchymal tumorYears of ageMesenchymal tumorsComputerized tomographyMixed connective tissue variantConnective tissue variantLower extremity painPoor linear growthRight proximal tibiaSpindle cell neoplasmFibroma-like variantLeft mandibular ramusBone painOncogenic ricketsRachitic abnormalitiesLytic lesionsRadiographic evidenceSecond patientFirst patientMuscle weaknessOccult tumorsPatient 1Prominent vascularityChondroid materialFibroblast-like cells