2017
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group
Wu CC, Econs MJ, DiMeglio LA, Insogna KL, Levine MA, Orchard PJ, Miller WP, Petryk A, Rush ET, Shoback DM, Ward LM, Polgreen LE. Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group. The Journal Of Clinical Endocrinology & Metabolism 2017, 102: 3111-3123. PMID: 28655174, DOI: 10.1210/jc.2017-01127.Peer-Reviewed Original ResearchConceptsHematopoietic cell transplantationDisease complicationsConsensus guidelinesHigher bone mineral densityRare metabolic bone diseaseCranial nerve impingementManagement of patientsEvidence-based guidelinesStrength of recommendationsCharacteristic radiographic findingsExpert opinion-based guidelinesQuality of evidenceStandard of careExpert consensus guidelinesBone mineral densityMetabolic bone diseaseOpinion-based guidelinesSevere infantile formNerve impingementRecommendations AssessmentSupportive therapyRadiographic findingsAreas of diagnosisCell transplantationDental disease
2011
A clinician's guide to X‐linked hypophosphatemia
Carpenter TO, Imel EA, Holm IA, de Beur S, Insogna KL. A clinician's guide to X‐linked hypophosphatemia. Journal Of Bone And Mineral Research 2011, 26: 1381-1388. PMID: 21538511, PMCID: PMC3157040, DOI: 10.1002/jbmr.340.BooksMeSH KeywordsFamilial Hypophosphatemic RicketsGenetic Diseases, X-LinkedHumansPractice Guidelines as TopicRadiographyConceptsTreatment guidelinesRenal phosphate wastingPathophysiologic featuresPrototypic disorderPhosphate wastingClinician's GuideMissed diagnosisSupport groupsConference recommendationsCommon formComplex disorderDearth of informationHypophosphatemiaDisordersGuidelinesPatientsScientific conferencesRicketsCliniciansDiseasePhysiciansDiagnosisWasting