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Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: koeller dm. J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431622 Free PMC article. Review.
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
Sauer SW, Okun JG, Fricker G, Mahringer A, Müller I, Crnic LR, Mühlhausen C, Hoffmann GF, Hörster F, Goodman SI, Harding CO, Koeller DM, Kölker S. Sauer SW, et al. Among authors: koeller dm. J Neurochem. 2006 May;97(3):899-910. doi: 10.1111/j.1471-4159.2006.03813.x. Epub 2006 Mar 29. J Neurochem. 2006. PMID: 16573641 Free article.
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.
Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF. Kölker S, et al. Among authors: koeller dm. Pediatr Res. 2006 Jun;59(6):840-7. doi: 10.1203/01.pdr.0000219387.79887.86. Epub 2006 Apr 26. Pediatr Res. 2006. PMID: 16641220
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
Kölker S, Boy SP, Heringer J, Müller E, Maier EM, Ensenauer R, Mühlhausen C, Schlune A, Greenberg CR, Koeller DM, Hoffmann GF, Haege G, Burgard P. Kölker S, et al. Among authors: koeller dm. Mol Genet Metab. 2012 Sep;107(1-2):72-80. doi: 10.1016/j.ymgme.2012.03.021. Epub 2012 Apr 4. Mol Genet Metab. 2012. PMID: 22520952
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S; Additional individual contributors. Boy N, et al. Among authors: koeller dm. J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16. J Inherit Metab Dis. 2017. PMID: 27853989 Review.
Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency.
Kölker S, Koeller DM, Sauer S, Hörster F, Schwab MA, Hoffmann GF, Ullrich K, Okun JG. Kölker S, et al. Among authors: koeller dm. J Inherit Metab Dis. 2004;27(6):805-12. doi: 10.1023/B:BOLI.0000045762.37248.28. J Inherit Metab Dis. 2004. PMID: 15505385 Review.
Animal models for glutaryl-CoA dehydrogenase deficiency.
Koeller DM, Sauer S, Wajner M, de Mello CF, Goodman SI, Woontner M, Mühlhausen C, Okun JG, Kölker S. Koeller DM, et al. J Inherit Metab Dis. 2004;27(6):813-8. doi: 10.1023/B:BOLI.0000045763.52907.5e. J Inherit Metab Dis. 2004. PMID: 15505386
106 results