2024
Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia
Ali D, Mirza R, Alsarraf F, Hussein S, Abu Alrob H, Appelman-Dijkstra N, Beck-Nielsen S, Biosse-Duplan M, Brandi M, Carpenter T, Chaussain C, Cohen-Solal M, Crowley R, Dandurand K, Florenzano P, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Imel E, de Beur S, Lehman A, Lewiecki E, Morgante E, Ward L, Khan A, Guyatt G. Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 2024, 110: 1767-1780. PMID: 39715351, PMCID: PMC12086399, DOI: 10.1210/clinem/dgae890.Peer-Reviewed Original ResearchX-linked hypophosphatemiaConventional therapyPatient-important outcomesNo treatmentModerate certaintyObservational studyAdult patientsManagement of "X-linked hypophosphatemiaEfficacy of medical therapyEffects of burosumabLow certaintyObservational study of individualsHigh-certainty evidenceAssessed risk of biasRisk of biasAbscess riskLow RoB.Medical therapyImprove painPain measuresBurosumabWeb of ScienceGRADE methodologyTherapyEvidence certainty
2022
Hypercalcaemic and Hypocalcaemic Syndromes in Children
Ardeshirpour L, Carpenter T, Robinson C. Hypercalcaemic and Hypocalcaemic Syndromes in Children. 2022, 707-726. DOI: 10.1093/med/9780198870197.003.0087.Peer-Reviewed Original ResearchAge-specific approachesAge-dependent changesCalciotropic hormonesHormonal milieuMineral disordersCorrect diagnosisClinical problemCalcium homeostasisMineral homeostasisRelevant therapiesSerum mineralsMineral accretionRelevant physiologyHeritable disorderSyndromeChildhoodDiagnosisDisordersChildrenHomeostasisMineral requirementsEarly stagesHypercalcaemiaHypocalcaemiaTherapy
2018
Chapter 83 The Hypocalcemic Disorders
Gafni R, Insogna K, Carpenter T. Chapter 83 The Hypocalcemic Disorders. 2018, 527-547. DOI: 10.1016/b978-0-12-809963-6.00083-3.ChaptersHypocalcemic disordersParathyroid hormoneVitamin DHypocalcemic conditionsLong-term managementPTH secretionChronic hypocalcemiaNarrow normal rangeCalciotropic hormonesFunctional etiologyClinical manifestationsVitamin D.PTH actionHomeostatic disturbancesNormal rangePhysiologic consequencesClinical scenariosHypocalcemiaMetabolic activationDisordersMolecular actionsEtiologyHormoneFunctional mechanismsTherapy
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
Circulating Levels of Soluble Klotho and FGF23 in X-Linked Hypophosphatemia: Circadian Variance, Effects of Treatment, and Relationship to Parathyroid Status
Carpenter TO, Insogna KL, Zhang JH, Ellis B, Nieman S, Simpson C, Olear E, Gundberg CM. Circulating Levels of Soluble Klotho and FGF23 in X-Linked Hypophosphatemia: Circadian Variance, Effects of Treatment, and Relationship to Parathyroid Status. The Journal Of Clinical Endocrinology & Metabolism 2010, 95: e352-e357. PMID: 20685863, PMCID: PMC2968736, DOI: 10.1210/jc.2010-0589.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge FactorsAgedBone Density Conservation AgentsCalcitriolChildCircadian RhythmEnzyme-Linked Immunosorbent AssayFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Diseases, X-LinkedGlucuronidaseHumansKlotho ProteinsMaleMiddle AgedParathyroid HormonePhosphatesVitamin DConceptsSerum KlothoSerum FGF23Higher klotho levelsHospital research unitRenal phosphate handlingAcademic medical centerEffect of treatmentFibroblast growth factorKlotho levelsPTH secretionMedical therapySoluble KlothoDihydroxyvitamin DFGF23 regulationPhosphate handlingMedical CenterFGF23KlothoXLHCircadian variationGrowth factorPTHAdultsHypophosphatemiaTherapyTreatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 Concentrations
Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ. Treatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 Concentrations. The Journal Of Clinical Endocrinology & Metabolism 2010, 95: 1846-1850. PMID: 20157195, PMCID: PMC2853995, DOI: 10.1210/jc.2009-1671.Peer-Reviewed Original ResearchConceptsFGF23 concentrationsXLH patientsFibroblast growth factor 23 concentrationsGrowth factor 23 concentrationsFibroblast Growth Factor 23 ExpressionComplications of therapyDihydroxyvitamin D concentrationsProspective observational studyTertiary referral centerIntact FGF23 concentrationsRoutine clinical managementOral calcitriolReferral centerClinical managementFGF23 elevationObservational studyTherapeutic effectRenal phosphateCalcitriolD concentrationsDisease severityNormal serumVivo modelTherapyMost subjects
2001
Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets
Moltz K, Friedman A, Nehgme R, Kleinman C, Carpenter T. Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets. Current Opinion In Pediatrics 2001, 13: 373-375. PMID: 11717565, DOI: 10.1097/00008480-200108000-00015.Peer-Reviewed Original Research
1985
Lysinuric Protein Intolerance Presenting as Childhood Osteoporosis — Clinical and Skeletal Response to Citrulline Therapy
Carpenter T, Levy H, Holtrop M, Shih V, Anast C. Lysinuric Protein Intolerance Presenting as Childhood Osteoporosis — Clinical and Skeletal Response to Citrulline Therapy. New England Journal Of Medicine 1985, 312: 290-294. PMID: 3917550, DOI: 10.1056/nejm198501313120506.Peer-Reviewed Original Research
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