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Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.
Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Barić I, Lund AM, Kölker S, Williams M; Additional individual contributors from E-IMD. Molema F, et al. Among authors: kolker s. J Inherit Metab Dis. 2019 Nov;42(6):1162-1175. doi: 10.1002/jimd.12066. Epub 2019 Feb 27. J Inherit Metab Dis. 2019. PMID: 30734935 Free article.
Neonatal screening for glutaryl-CoA dehydrogenase deficiency.
Lindner M, Kölker S, Schulze A, Christensen E, Greenberg CR, Hoffmann GF. Lindner M, et al. Among authors: kolker s. J Inherit Metab Dis. 2004;27(6):851-9. doi: 10.1023/B:BOLI.0000045769.96657.af. J Inherit Metab Dis. 2004. PMID: 15505392 Review.
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.
Mühlhausen C, Hoffmann GF, Strauss KA, Kölker S, Okun JG, Greenberg CR, Naughten ER, Ullrich K. Mühlhausen C, et al. Among authors: kolker s. J Inherit Metab Dis. 2004;27(6):885-92. doi: 10.1023/B:BOLI.0000045773.07785.83. J Inherit Metab Dis. 2004. PMID: 15505396 Review.
Emergency treatment in glutaryl-CoA dehydrogenase deficiency.
Kölker S, Greenberg CR, Lindner M, Müller E, Naughten ER, Hoffmann GF. Kölker S, et al. J Inherit Metab Dis. 2004;27(6):893-902. doi: 10.1023/B:BOLI.0000045774.51260.ea. J Inherit Metab Dis. 2004. PMID: 15505397 Review.
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. 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
332 results