Kölker S - Search Results

1

Newborn screening for homocystinurias: Recent recommendations versus current practice.

Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD); Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M. Keller R, et al. Among authors: kolker s. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. J Inherit Metab Dis. 2019. PMID: 30740731 Free article.

2

Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity.

Okun JG, Hörster F, Farkas LM, Feyh P, Hinz A, Sauer S, Hoffmann GF, Unsicker K, Mayatepek E, Kölker S. Okun JG, et al. Among authors: kolker s. J Biol Chem. 2002 Apr 26;277(17):14674-80. doi: 10.1074/jbc.M200997200. Epub 2002 Feb 14. J Biol Chem. 2002. PMID: 11847233 Free article.

3

Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons.

Kölker S, Köhr G, Ahlemeyer B, Okun JG, Pawlak V, Hörster F, Mayatepek E, Krieglstein J, Hoffmann GF. Kölker S, et al. Pediatr Res. 2002 Aug;52(2):199-206. doi: 10.1203/00006450-200208000-00011. Pediatr Res. 2002. PMID: 12149496

4

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.

Okun JG, Kölker S, Schulze A, Kohlmüller D, Olgemöller K, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. Okun JG, et al. Among authors: kolker s. Biochim Biophys Acta. 2002 Oct 10;1584(2-3):91-8. doi: 10.1016/s1388-1981(02)00296-2. Biochim Biophys Acta. 2002. PMID: 12385891

5

Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain.

Kölker S, Schwab M, Hörster F, Sauer S, Hinz A, Wolf NI, Mayatepek E, Hoffmann GF, Smeitink JA, Okun JG. Kölker S, et al. J Biol Chem. 2003 Nov 28;278(48):47388-93. doi: 10.1074/jbc.M308861200. Epub 2003 Sep 12. J Biol Chem. 2003. PMID: 12972416 Free article.

6

Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.

Kölker S, Hoffmann GF, Schor DS, Feyh P, Wagner L, Jeffrey I, Pourfarzam M, Okun JG, Zschocke J, Baric I, Bain MD, Jakobs C, Chalmers RA. Kölker S, et al. Neuropediatrics. 2003 Jun;34(5):253-60. doi: 10.1055/s-2003-43261. Neuropediatrics. 2003. PMID: 14598231

7

Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.

Kölker S, Koeller DM, Okun JG, Hoffmann GF. Kölker S, et al. Ann Neurol. 2004 Jan;55(1):7-12. doi: 10.1002/ana.10784. Ann Neurol. 2004. PMID: 14705106 Review.

8

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. 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.

9

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. Among authors: kolker s. J Inherit Metab Dis. 2004;27(6):813-8. doi: 10.1023/B:BOLI.0000045763.52907.5e. J Inherit Metab Dis. 2004. PMID: 15505386

10

Challenges for basic research in glutaryl-CoA dehydrogenase deficiency.

Kölker S, Strauss KA, Goodman SI, Hoffmann GF, Okun JG, Koeller DM. Kölker S, et al. J Inherit Metab Dis. 2004;27(6):843-9. doi: 10.1023/B:BOLI.0000045768.38073.22. J Inherit Metab Dis. 2004. PMID: 15505391 Review.

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