2025
Switching From Active Vitamin d and Phosphate Supplementation to Burosumab Significantly Corrects Lower Limb Malalignment in Pediatric X-Linked Hypophosphatemia
Ward L, Imel E, Frumberg D, Dilworth L, Siener C, Chen Z, Krolczyk S, Carpenter T. Switching From Active Vitamin d and Phosphate Supplementation to Burosumab Significantly Corrects Lower Limb Malalignment in Pediatric X-Linked Hypophosphatemia. Journal Of Bone And Mineral Research 2025, zjaf079. PMID: 40511857, DOI: 10.1093/jbmr/zjaf079.Peer-Reviewed Original ResearchLower limb malalignmentLimb malalignmentLower-limb malalignmentBaseline height z scoreZ-scoreLower extremity deformitiesLimbs of patientsX-linked hypophosphatemiaAssociated with greater changesFactor analysisLower limb malformationsDisease monitoring programsHeight z-scoreChance of improvementExtremity deformitiesGauge improvementYounger ageVitamin DBurosumab treatmentMalalignmentTreating physicianPediatric populationPhosphate supplementationRenal phosphate wastingActive vitamin DCraniosynostosis among children with X-linked hypophosphatemia: A systematic review and meta-analysis
Fisch S, Tudor A, Benchekroun E, Landsberg W, Feldstein N, Lamb M, Carpenter T, Rundle A, Jacobson J, Neugut A, Freedberg D. Craniosynostosis among children with X-linked hypophosphatemia: A systematic review and meta-analysis. Bone 2025, 196: 117488. PMID: 40220947, DOI: 10.1016/j.bone.2025.117488.Peer-Reviewed Original ResearchX-linked hypophosphatemiaPrevalence of craniosynostosisPooled prevalenceSystematic reviewMeta-analysisRandom-effects modelWeb of SciencePediatric populationSkull abnormalitiesCohort studyImpaired phosphate reabsorptionElevated FGF23 levelsPrevalenceFemale predominanceCase seriesFGF23 levelsPhosphate reabsorptionGene variantsChildrenIncreased vigilanceCraniosynostosisAbnormal bone growthGenetic disordersHypophosphatemiaAbnormalities
2023
Genetic variants in the vitamin D pathway and their association with vitamin D metabolite levels: Detailed studies of an inner-city pediatric population suggest a modest but significant effect in early childhood
Fu L, Wong B, Li Z, Horst R, Williams R, Lee B, Miller J, Carpenter T, Cole D. Genetic variants in the vitamin D pathway and their association with vitamin D metabolite levels: Detailed studies of an inner-city pediatric population suggest a modest but significant effect in early childhood. The Journal Of Steroid Biochemistry And Molecular Biology 2023, 233: 106369. PMID: 37490983, DOI: 10.1016/j.jsbmb.2023.106369.Peer-Reviewed Original ResearchConceptsVitamin D pathwayD binding proteinPediatric populationInner-city pediatric populationVitamin D metabolite levelsVitamin D insufficiencyRisk pediatric populationsVitamin D metabolismVitamin D binding proteinVitamin D metabolitesD pathwayMonths of ageSanger sequencing confirmationD insufficiencyHealthy infantsD metabolismD levelsD metabolitesMultivariate regression modelLarge cohortMetabolite levelsRelevant associationsPotential roleEarly childhoodInter-individual differences
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