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Page 1
Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures.
Lee JS, Adler L, Karathia H, Carmel N, Rabinovich S, Auslander N, Keshet R, Stettner N, Silberman A, Agemy L, Helbling D, Eilam R, Sun Q, Brandis A, Malitsky S, Itkin M, Weiss H, Pinto S, Kalaora S, Levy R, Barnea E, Admon A, Dimmock D, Stern-Ginossar N, Scherz A, Nagamani SCS, Unda M, Wilson DM 3rd, Elhasid R, Carracedo A, Samuels Y, Hannenhalli S, Ruppin E, Erez A. Lee JS, et al. Among authors: nagamani scs. Cell. 2018 Sep 6;174(6):1559-1570.e22. doi: 10.1016/j.cell.2018.07.019. Epub 2018 Aug 9. Cell. 2018. PMID: 30100185 Free PMC article.
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.
Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.
Hald JD, Langdahl B, Folkestad L, Wekre LL, Johnson R, Nagamani SCS, Raggio C, Ralston SH, Semler O, Tosi L, Orwoll E. Hald JD, et al. Among authors: nagamani scs. Calcif Tissue Int. 2024 Dec;115(6):863-872. doi: 10.1007/s00223-024-01236-x. Epub 2024 Jun 5. Calcif Tissue Int. 2024. PMID: 38836890 Review.
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. J Clin Psychol Med Settings. 2024 Sep;31(3):614-627. doi: 10.1007/s10880-023-09991-z. Epub 2024 Jan 28. J Clin Psychol Med Settings. 2024. PMID: 38281305 Free PMC article.
Requirement of argininosuccinate lyase for systemic nitric oxide production.
Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar M, O'Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B. Erez A, et al. Nat Med. 2011 Nov 13;17(12):1619-26. doi: 10.1038/nm.2544. Nat Med. 2011. PMID: 22081021 Free PMC article.
Argininosuccinate lyase deficiency.
Nagamani SC, Erez A, Lee B. Nagamani SC, et al. Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241104 Free PMC article. Review.
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B. Nagamani SC, et al. Am J Hum Genet. 2012 May 4;90(5):836-46. doi: 10.1016/j.ajhg.2012.03.018. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541557 Free PMC article.
Optimizing therapy for argininosuccinic aciduria.
Nagamani SC, Lee B, Erez A. Nagamani SC, et al. Mol Genet Metab. 2012 Sep;107(1-2):10-4. doi: 10.1016/j.ymgme.2012.07.009. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22841516 Free PMC article. Review.
105 results