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 evidence
2024
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines
Al-Samkari H, Shehata N, Lang-Robertson K, Bianchi P, Glenthøj A, Sheth S, Neufeld E, Rees D, Chonat S, Kuo K, Rothman J, Barcellini W, van Beers E, Pospíšilová D, Shah A, van Wijk R, Glader B, Mañú Pereira M, Andres O, Kalfa T, Eber S, Gallagher P, Kwiatkowski J, Galacteros F, Lander C, Watson A, Elbard R, Peereboom D, Grace R. Diagnosis and management of pyruvate kinase deficiency: international expert guidelines. The Lancet Haematology 2024, 11: e228-e239. PMID: 38330977, DOI: 10.1016/s2352-3026(23)00377-0.Peer-Reviewed Original ResearchExpert panelCountry of practiceCare of patientsEvidence-based guidelinesQuality of lifeClinical care of patientsPyruvate kinase deficiencySystematic literature searchDeficient careGuideline methodologistsPK deficiencyClinical careClinical guidelinesInternational expert guidelinesEstimated prevalenceHaemolytic anaemiaConsensus procedureManagement of chronic complicationsDraft recommendationsGRADE methodologyAGREE II frameworkExpert guidelinesLiterature searchClinical practiceInternational guidelines
2009
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Journal Of Medical Genetics 2009, 48: 73. PMID: 19553198, DOI: 10.1136/jmg.2009.069013.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsStructured consensus processGuideline processDiagnosis of HHTGuidelines Working GroupLife-threatening hemorrhageHealth care workersHereditary haemorrhagic telangiectasiaOvid MEDLINE databasesConsensus processSignificant arteriovenous malformationsAutosomal dominant diseaseSymptomatic diseaseSystematic search strategyWorking GroupConsensus guidelinesArteriovenous malformationsEvidence tablesClinic staffGuideline conferenceHealth care administratorsGastrointestinal tractAvailable screeningCare workersGuideline methodologistsMEDLINE database
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