2020
Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation
Eswarakumar AS, S. N, Ward LM, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Imel EA, Gagne J, Cody D, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth RS, Gordon R, Casey L, Carpenter TO. Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation. Clinical Pediatrics 2020, 59: 1080-1085. PMID: 32666808, DOI: 10.1177/0009922820941097.Peer-Reviewed Original ResearchConceptsElemental formula useBone diseaseFormula useHypophosphatemic bone diseaseTerm Follow-upLong-term outcomesSerum phosphorus concentrationSerum alkaline phosphatase activitySerum alkaline phosphataseSeverity/durationTime of correctionChart reviewSerum phosphorusDisease AssociatedFollow-upPhosphate supplementationExtent of recoveryDiseaseDiagnosisFormula changesRadiology reportsSupplementationAlkaline phosphataseAlkaline phosphatase activityReport
2018
Prevalence of Metabolic Bone Disease in Tube-Fed Children Receiving Elemental Formula
Creo A, Epp L, Buchholtz J, Tebben P. Prevalence of Metabolic Bone Disease in Tube-Fed Children Receiving Elemental Formula. Hormone Research In Paediatrics 2018, 90: 291-298. PMID: 30497080, DOI: 10.1159/000494726.Peer-Reviewed Original ResearchMeSH KeywordsBone Diseases, MetabolicChild, PreschoolFemaleHumansInfantInfant FormulaInfant Nutritional Physiological PhenomenaMalePrevalenceRetrospective StudiesConceptsMetabolic bone diseasePrevalence of metabolic bone diseaseEvidence of bone diseaseRadiographic evidence of bone diseaseSemi-elemental formulaBone diseaseRadiographic evidenceTube-fed childrenAmino acid-based formulaRetrospective cohortInstitutional databaseRadiographic abnormalitiesReview periodMulticenter surveyElemental formulaNeocateSuspected casesEstimated prevalence
2016
Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect
O’Keeffe D, Tebben P, Kumar R, Singh R, Wu Y, Wermers R. Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect. Osteoporosis International 2016, 27: 3121-3125. PMID: 27129455, DOI: 10.1007/s00198-016-3615-6.Peer-Reviewed Original ResearchConceptsMonoallelic mutationsGene dose effectCYP24A1 mutationsCYP24A1 geneBiallelic mutationsBiochemical phenotypeDisease manifestationsElevated serum 1,25(OH)2DBone turnover markersMutations of CYP24A1Dose effectCompound heterozygous mutationsVitamin D metabolitesLow PTH concentrationsSerum 1,25(OH)2DUrine calciumResultsThe probandTurnover markersUrinary calciumHeterozygous mutationsPTH concentrationsD metabolitesSequence informationIntroductionThe objectiveMedical history