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Evaluation of teriparatide treatment in adults with osteogenesis imperfecta.
Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C, Reeder JL, Keaveny TM, Lee DC, Mullins MA, Nagamani SC, Lee B. Orwoll ES, et al. Among authors: lee dc, lee b. J Clin Invest. 2014 Feb;124(2):491-8. doi: 10.1172/JCI71101. Epub 2014 Jan 27. J Clin Invest. 2014. PMID: 24463451 Free PMC article. Clinical Trial.
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study.
Tosi LL, Floor MK, Dollar CM, Gillies AP; Members of the Brittle Bone Disease Consortium; Hart TS, Cuthbertson DD, Sutton VR, Krischer JP. Tosi LL, et al. Orphanet J Rare Dis. 2019 Jan 29;14(1):23. doi: 10.1186/s13023-019-1004-x. Orphanet J Rare Dis. 2019. PMID: 30696467 Free PMC article.
Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study.
Shepherd WS, Wiese AD, Cho HE, Rork WC, Baig MU, Kostick KM, Nguyen D, Carter EM; Members of the BBDC; Murali CN, Robinson ME, Schneider SC, Lee B, Sutton VR, Storch EA. Shepherd WS, et al. Among authors: lee b. J Clin Psychol Med Settings. 2024 Jan 28. doi: 10.1007/s10880-023-09991-z. Online ahead of print. J Clin Psychol Med Settings. 2024. PMID: 38281305
Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.
Buerger C, Garbade SF, Dietrich Alber F, Waisbren SE, McCarter R, Kölker S, Burgard P; Urea Cycle Disorders Consortium. Buerger C, et al. J Inherit Metab Dis. 2019 Mar;42(2):243-253. doi: 10.1002/jimd.12013. Epub 2019 Jan 22. J Inherit Metab Dis. 2019. PMID: 30671983 Free PMC article.
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless SE, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P; Additional individual contributors of the UCDC and the E-IMD consortium. Posset R, et al. J Inherit Metab Dis. 2019 Jan;42(1):93-106. doi: 10.1002/jimd.12031. J Inherit Metab Dis. 2019. PMID: 30740724 Free PMC article.
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