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
2015
Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease
Connor J, Olear EA, Insogna KL, Katz L, Baker S, Kaur R, Simpson CA, Sterpka J, Dubrow R, Zhang JH, Carpenter TO. Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease. The Journal Of Clinical Endocrinology & Metabolism 2015, 100: 3625-3632. PMID: 26176801, PMCID: PMC4596038, DOI: 10.1210/jc.2015-2199.Peer-Reviewed Original ResearchConceptsSevere dental diseaseHospital research unitDental diseaseDisease severityXLH patientsMajor long-term morbidityActive vitamin D metaboliteAdult XLH patientsLong-term morbidityVitamin D metabolitesAdult lifeMultiple logistic regressionRadiographic skeletal surveySignificant predictorsProportion of adultsConventional therapyD metabolitesSkeletal surveyLower riskExposure variablesLogistic regressionDiseaseEnthesopathySkeletal deformitiesTreatment variables