2024
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
Pinto e Vairo F, Kemppainen J, Vitek C, Whalen D, Kolbert K, Sikkink K, Kroc S, Kruisselbrink T, Shupe G, Knudson A, Burke E, Loftus E, Bandel L, Prochnow C, Mulvihill L, Thomas B, Gable D, Graddy C, Garzon G, Ekpoh I, Porquera E, Fervenza F, Hogan M, El Ters M, Warrington K, Davis J, Koster M, Orandi A, Basiaga M, Vella A, Kumar S, Creo A, Lteif A, Pittock S, Tebben P, Abate E, Joshi A, Ristagno E, Patnaik M, Schimmenti L, Dhamija R, Sabrowsky S, Wierenga K, Keddis M, Samadder N, Presutti R, Robinson S, Stephens M, Roberts L, Faubion W, Driscoll S, Wong-Kisiel L, Selcen D, Flanagan E, Ramanan V, Jackson L, Mauermann M, Ortega V, Anderson S, Aoudia S, Klee E, McAllister T, Lazaridis K. Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). Journal Of Translational Medicine 2024, 22: 400. PMID: 38689323, PMCID: PMC11061992, DOI: 10.1186/s12967-024-05185-9.Peer-Reviewed Original Research
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
2016
Primary Hyperparathyroidism in Children and Adolescents
Lo H, Tebben P. Primary Hyperparathyroidism in Children and Adolescents. 2016, 117-128. DOI: 10.1007/978-3-319-25880-5_14.ChaptersPrimary hyperparathyroidismMultiple-gland diseaseSporadic primary hyperparathyroidismDegree of hypercalcemiaAssociated with greater morbidityEnd-organ damageTime of diagnosisHigh-volume surgeonsParathyroid hormone concentrationsTarget organ sensitivityPediatric patientsRare conditionYounger patientsGreater morbidityEndocrine surgeryEndocrine disordersFamilial diseaseAffected organsHormone concentrationsHyperparathyroidismSurgeryPatientsDiseaseAdultsHypercalciuria