2016
Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect
O’Keeffe D, Tebben P, Kumar R, Singh R, Wu Y, Wermers R. Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect. Osteoporosis International 2016, 27: 3121-3125. PMID: 27129455, DOI: 10.1007/s00198-016-3615-6.Peer-Reviewed Original ResearchConceptsMonoallelic mutationsGene dose effectCYP24A1 mutationsCYP24A1 geneBiallelic mutationsBiochemical phenotypeDisease manifestationsElevated serum 1,25(OH)2DBone turnover markersMutations of CYP24A1Dose effectCompound heterozygous mutationsVitamin D metabolitesLow PTH concentrationsSerum 1,25(OH)2DUrine calciumResultsThe probandTurnover markersUrinary calciumHeterozygous mutationsPTH concentrationsD metabolitesSequence informationIntroductionThe objectiveMedical history
2015
Bone turnover markers in Paget’s disease of the bone: A Systematic review and meta-analysis
Al Nofal A, Altayar O, BenKhadra K, Qasim Agha O, Asi N, Nabhan M, Prokop L, Tebben P, Murad M. Bone turnover markers in Paget’s disease of the bone: A Systematic review and meta-analysis. Osteoporosis International 2015, 26: 1875-1891. PMID: 26037791, DOI: 10.1007/s00198-015-3095-0.Peer-Reviewed Original ResearchConceptsBone turnover markersBone turnover marker concentrationsTurnover markersDisease activityDisease of bonePaget's diseaseBone ALPBone scintigraphyMeta-analysisConcentrations of bone turnover markersIntroductionPaget’s disease of boneMeta-analysis searching MEDLINEUrine N-terminal telopeptideProcollagen type 1 amino-terminal propeptideSystematic reviewBone-specific alkaline phosphataseMarkers of disease activityCorrelation of disease activityPresence of liver diseaseDisease patientsCochrane Central Register of Controlled TrialsQuantitative bone scintigraphyCentral Register of Controlled TrialsC-terminal telopeptideN-terminal telopeptide