2022
Hypophosphatemia: A Practical Guide to Evaluation and Management
Tebben P. Hypophosphatemia: A Practical Guide to Evaluation and Management. Endocrine Practice 2022, 28: 1091-1099. PMID: 35940468, DOI: 10.1016/j.eprac.2022.07.005.Peer-Reviewed Original ResearchMeSH KeywordsBone and BonesFibroblast Growth FactorsHumansHypophosphatemiaOsteomalaciaParathyroid HormonePhosphatesConceptsClinical manifestationsNormal phosphate homeostasisParathyroid hormoneFibroblast growth factorFunction of phosphateRange of symptomsCell membrane integrityEnzyme functionGrowth factorPhosphate balanceSkeletal mineralizationMembrane integrityChronic causesGastrointestinal tractPhosphate homeostasisDiverse rolesEnergy homeostasisHypophosphatemia
2017
Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome
Sakka S, Gafni R, Davies J, Clarke B, Tebben P, Samuels M, Saraff V, Klaushofer K, Fratzl-Zelman N, Roschger P, Rauch F, Högler W. Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome. The Journal Of Clinical Endocrinology & Metabolism 2017, 102: 4163-4172. PMID: 28938420, PMCID: PMC5673271, DOI: 10.1210/jc.2017-01102.Peer-Reviewed Original ResearchConceptsHajdu-Cheney syndromeIncreased bone resorptionBP therapyNOTCH2 mutationsLumbar spine bone mineral densityBone resorptionIncreased heterogeneity of mineralizationResponse to bisphosphonate treatmentLumbar spine bone densitySpine bone mineral densityDual-energy X-ray absorptiometryTransiliac bone biopsy specimensQuantitative computed tomography resultsBone histomorphometric characteristicsSpine bone densityPeripheral quantitative computed tomography resultsCortical thicknessResponse to bisphosphonatesX-ray absorptiometryBone mineral densityPeripheral quantitative computed tomographyBone biopsy specimensResponse to BPComputed tomography resultsQuantitative computed tomography
2016
Bone Pain in a 4-year-old Boy with Chronic Granulomatous Disease and History of Aspergillus pneumonia
Uzodi A, Tebben P, Boyce T. Bone Pain in a 4-year-old Boy with Chronic Granulomatous Disease and History of Aspergillus pneumonia. The Pediatric Infectious Disease Journal 2016, 35: 464-465. PMID: 26967683, DOI: 10.1097/inf.0000000000001042.Peer-Reviewed Case Reports and Technical Notes
2010
Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome
Kirmani S, Tebben P, Lteif A, Gordon D, Clarke B, Hefferan T, Yaszemski M, McGrann P, Lindor N, Ellison J. Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome. American Journal Of Medical Genetics Part A 2010, 152A: 1016-1019. PMID: 20358619, DOI: 10.1002/ajmg.a.33356.Peer-Reviewed Case Reports and Technical NotesConceptsLow bone mineral densityBone mineral densityMarfan syndromeSkeletal fragilitySurgical repairMineral densityTalipes equinovarusEhlers-Danlos syndrome type IVFamilial aortic aneurysmsAortic root dilatationSubmucous cleft palateLoeys-Dietz syndromeRoot dilatationCleft palateFragility fracturesSignificant skeletal deformityHeterozygous mutationsReceptor mutationsPectus excavatumVascular fragilityEDS-IVInguinal herniaAortic aneurysmAscending aortaVascular complications