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Page 1
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy.
Plecko B, Hikel C, Korenke GC, Schmitt B, Baumgartner M, Baumeister F, Jakobs C, Struys E, Erwa W, Stöckler-Ipsiroglu S. Plecko B, et al. Among authors: baumgartner m. Neuropediatrics. 2005 Jun;36(3):200-5. doi: 10.1055/s-2005-865727. Neuropediatrics. 2005. PMID: 15944906
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT. Mills PB, et al. Among authors: baumgartner m. Nat Med. 2006 Mar;12(3):307-9. doi: 10.1038/nm1366. Epub 2006 Feb 19. Nat Med. 2006. PMID: 16491085
Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders.
Peduto A, Baumgartner MR, Verhoeven NM, Rabier D, Spada M, Nassogne MC, Poll-The BT, Bonetti G, Jakobs C, Saudubray JM. Peduto A, et al. Among authors: baumgartner mr. Mol Genet Metab. 2004 Jul;82(3):224-30. doi: 10.1016/j.ymgme.2004.04.010. Mol Genet Metab. 2004. PMID: 15234336
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.
Hoffmann GF, Schmitt B, Windfuhr M, Wagner N, Strehl H, Bagci S, Franz AR, Mills PB, Clayton PT, Baumgartner MR, Steinmann B, Bast T, Wolf NI, Zschocke J. Hoffmann GF, et al. Among authors: baumgartner mr. J Inherit Metab Dis. 2007 Feb;30(1):96-9. doi: 10.1007/s10545-006-0508-4. Epub 2006 Dec 23. J Inherit Metab Dis. 2007. PMID: 17216302
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Spiekerkoetter U, et al. Among authors: baumgartner mr. J Inherit Metab Dis. 2009 Aug;32(4):488-97. doi: 10.1007/s10545-009-1125-9. Epub 2009 Apr 29. J Inherit Metab Dis. 2009. PMID: 19399638
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Spiekerkoetter U, et al. Among authors: baumgartner mr. J Inherit Metab Dis. 2009 Aug;32(4):498-505. doi: 10.1007/s10545-009-1126-8. Epub 2009 Apr 28. J Inherit Metab Dis. 2009. PMID: 19452263
743 results