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Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Nägele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Kölker S, Burda P, Froese DS, Devuyst O, Baumgartner MR. Forny P, et al. Among authors: kolker s. J Biol Chem. 2016 Sep 23;291(39):20563-73. doi: 10.1074/jbc.M116.747717. Epub 2016 Aug 12. J Biol Chem. 2016. PMID: 27519416 Free PMC article.
Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.
Keyser B, Glatzel M, Stellmer F, Kortmann B, Lukacs Z, Kölker S, Sauer SW, Muschol N, Herdering W, Thiem J, Goodman SI, Koeller DM, Ullrich K, Braulke T, Mühlhausen C. Keyser B, et al. Among authors: kolker s. Biochim Biophys Acta. 2008 Jun;1782(6):385-90. doi: 10.1016/j.bbadis.2008.02.008. Epub 2008 Feb 29. Biochim Biophys Acta. 2008. PMID: 18348873 Free article.
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.
Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gökcay G, Grünewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Müller E, Kölker S, Hörster F. Zwickler T, et al. Among authors: kolker s. J Inherit Metab Dis. 2008 Jun;31(3):361-7. doi: 10.1007/s10545-008-0804-2. Epub 2008 May 27. J Inherit Metab Dis. 2008. PMID: 18563634
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S. Hörster F, et al. Among authors: kolker s. J Inherit Metab Dis. 2009 Oct;32(5):630. doi: 10.1007/s10545-009-1189-6. Epub 2009 Jul 31. J Inherit Metab Dis. 2009. PMID: 19642010
311 results