2025
Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults
Ali D, Khan A, Mirza R, Appelman-Dijkstra N, Brandi M, Carpenter T, Chaussain C, Imel E, de Beur S, Florenzano P, Morrison A, Alrob H, Alexander R, Alsarraf F, Beck-Nielsen S, Biosse-Duplan M, Cohen-Solal M, Crowley R, Dandurand K, Filler G, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid M, Khan S, Khan A, Lehman A, Lems W, Lewiecki E, McDonnell C, Morgante E, Portale A, Rhee Y, Siggelkow H, Tosi L, Ward L, Guyatt G. Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults. Journal Of Bone And Mineral Metabolism 2025, 43: 193-202. PMID: 40119067, DOI: 10.1007/s00774-025-01585-z.Peer-Reviewed Original ResearchConceptsCertainty of evidenceGRADE recommendationsImpact of medical interventionsManagement of "X-linked hypophosphatemiaX-linked hypophosphatemiaClinical practice guidelinesPatient-important outcomesRisk of biasNarrative literature reviewClinical practice surveyPatient partnersGuideline methodologistsGuideline panelFindings tablePractice guidelinesSystematic reviewPractice surveyMedical interventionsPregnant womenRecommendation strengthTreatment recommendationsInternational expertsPatient populationComprehensive guidelinesBody of evidenceCurrent Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience
Ali D, Alsarraf F, Abu Alrob H, Alexander R, Almoulia A, Appelman-Dijkstra N, Beck-Nielsen S, Biosse-Duplan M, Brandi M, Carpenter T, Chaussain C, Cohen-Solal M, Crowley R, Dandurand K, Florenzano P, Gagnon C, Goodyer P, Grimbly C, Hussein S, Imel E, de Beur S, Javaid M, Lehman A, Lems W, Lewiecki E, McDonnell C, Mirza R, Morgante E, Portale A, Rhee Y, Siggelkow H, Tosi L, Ward L, Guyatt G, Khan A. Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience. The Journal Of Clinical Endocrinology & Metabolism 2025, 110: e2347-e2361. PMID: 40111179, PMCID: PMC12190797, DOI: 10.1210/clinem/dgaf180.Peer-Reviewed Original ResearchConceptsX-linked hypophosphatemiaFollow-upManagement of "X-linked hypophosphatemiaPresence of bone painBlood pressureHistory of fractureSkeletal deformitiesEvaluation of childrenBone painDental infectionsRenal ultrasoundDental assessmentLaboratory profileChild follow-upRenal functionPHEX geneSerum phosphorusAssess painClinical examinationLactating womenFamily historyHypophosphatemiaAdult follow-upJoint involvementPatientsX-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline
Ali D, Carpenter T, Imel E, Ward L, Appelman-Dijkstra N, Chaussain C, de Beur S, Florenzano P, Abu Alrob H, Aldabagh R, Alexander R, Alsarraf F, Beck-Nielsen S, Biosse-Duplan M, Crowley R, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid M, Khan S, Khan A, Lehman A, Lems W, Lewiecki E, McDonnell C, Mirza R, Morgante E, Morrison A, Portale A, Rao C, Rhee Y, Rush E, Siggelkow H, Tetradis S, Tosi L, Guyatt G, Brandi M, Khan A. X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline. The Journal Of Clinical Endocrinology & Metabolism 2025, 110: 2055-2070. PMID: 39960858, PMCID: PMC12187519, DOI: 10.1210/clinem/dgaf093.Peer-Reviewed Original ResearchClinical practice guidelinesInternational Working GroupX-linked hypophosphatemiaClinical practice surveyPractice guidelinesMultidisciplinary healthcare professionalsPractice surveyManagement of "X-linked hypophosphatemiaPatient-important outcomesCertainty of evidenceCare of childrenNo therapyConventional therapyHealthcare professionalsDiagnosis of XLHPatient partnersMonitoring recommendationsTreatment of X-linked hypophosphatemiaMethodological expertsGRADE recommendationsSystematic reviewGenetic testingGRADE methodologyNarrative reviewDental complicationsSystematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients With X-Linked Hypophosphatemia
Ali D, Mirza R, Hussein S, Alsarraf F, Alexander R, Abu Alrob H, Appelman-Dijkstra N, Biosse-Duplan M, Brandi M, Carpenter T, Chaussain C, Dandurand K, Filler G, Florenzano P, Fukumoto S, Grasemann C, Imel E, de Beur S, Morgante E, Ward L, Khan A, Guyatt G. Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients With X-Linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 2025, 110: 1205-1217. PMID: 39787354, PMCID: PMC12012687, DOI: 10.1210/clinem/dgaf011.Peer-Reviewed Original ResearchX-linked hypophosphatemiaConventional therapyLower limb deformitiesNo treatmentMedical therapyAdverse eventsManagement of "X-linked hypophosphatemiaTreatment-emergent adverse eventsObservational study of individualsObservational studyEfficacy of medical therapyPhysical health QoLAssessed risk of biasBurden of symptomsEffects of medical therapyOpen-label RCTRisk of biasCertainty of evidenceIncreased adverse eventsLimb deformitiesPost hoc studyWeb of ScienceHealth QoLStudy of individualsDental abscess
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
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