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Homocarnosinosis: A historical update and findings in the SPG11 gene.
Sjaastad O, Blau N, Rydning SL, Peters V, Rødningen O, Stray-Pedersen A, Krossnes B, Tallaksen C, Koht J. Sjaastad O, et al. Among authors: peters v. Acta Neurol Scand. 2018 Sep;138(3):245-250. doi: 10.1111/ane.12949. Epub 2018 May 6. Acta Neurol Scand. 2018. PMID: 29732542
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.
Ly TB, Peters V, Gibson KM, Liesert M, Buckel W, Wilcken B, Carpenter K, Ensenauer R, Hoffmann GF, Mack M, Zschocke J. Ly TB, et al. Among authors: peters v. Hum Mutat. 2003 Apr;21(4):401-7. doi: 10.1002/humu.10202. Hum Mutat. 2003. PMID: 12655555
Quo vadis: the re-definition of "inborn metabolic diseases".
Morava E, Rahman S, Peters V, Baumgartner MR, Patterson M, Zschocke J. Morava E, et al. Among authors: peters v. J Inherit Metab Dis. 2015 Nov;38(6):1003-6. doi: 10.1007/s10545-015-9893-x. Epub 2015 Sep 29. J Inherit Metab Dis. 2015. PMID: 26420281 No abstract available.
The CNDP1 (CTG)5 Polymorphism Is Associated with Biopsy-Proven Diabetic Nephropathy, Time on Hemodialysis, and Diabetes Duration.
Albrecht T, Zhang S, Braun JD, Xia L, Rodriquez A, Qiu J, Peters V, Schmitt CP, van den Born J, Bakker SJL, Lammert A, Köppel H, Schnuelle P, Krämer BK, Yard BA, Hauske SJ. Albrecht T, et al. Among authors: peters v. J Diabetes Res. 2017;2017:9506730. doi: 10.1155/2017/9506730. Epub 2017 May 3. J Diabetes Res. 2017. PMID: 28553654 Free PMC article.
Newborn screening: To WES or not to WES, that is the question.
Morava E, Baumgartner M, Patterson M, Peters V, Rahman S. Morava E, et al. Among authors: peters v. J Inherit Metab Dis. 2020 Sep;43(5):904-905. doi: 10.1002/jimd.12303. Epub 2020 Sep 2. J Inherit Metab Dis. 2020. PMID: 32844432 No abstract available.
Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1.
Janssen B, Hohenadel D, Brinkkoetter P, Peters V, Rind N, Fischer C, Rychlik I, Cerna M, Romzova M, de Heer E, Baelde H, Bakker SJ, Zirie M, Rondeau E, Mathieson P, Saleem MA, Meyer J, Köppel H, Sauerhoefer S, Bartram CR, Nawroth P, Hammes HP, Yard BA, Zschocke J, van der Woude FJ. Janssen B, et al. Among authors: peters v. Diabetes. 2005 Aug;54(8):2320-7. doi: 10.2337/diabetes.54.8.2320. Diabetes. 2005. PMID: 16046297
342 results