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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: muller e. 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.
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.
Kölker S, Garbade SF, Boy N, Maier EM, Meissner T, Mühlhausen C, Hennermann JB, Lücke T, Häberle J, Baumkötter J, Haller W, Muller E, Zschocke J, Burgard P, Hoffmann GF. Kölker S, et al. Among authors: muller e. Pediatr Res. 2007 Sep;62(3):357-63. doi: 10.1203/PDR.0b013e318137a124. Pediatr Res. 2007. PMID: 17622945
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: muller e. 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
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
Kölker S, Christensen E, Leonard JV, Greenberg CR, Burlina AB, Burlina AP, Dixon M, Duran M, Goodman SI, Koeller DM, Müller E, Naughten ER, Neumaier-Probst E, Okun JG, Kyllerman M, Surtees RA, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: muller e. J Inherit Metab Dis. 2007 Feb;30(1):5-22. doi: 10.1007/s10545-006-0451-4. Epub 2007 Jan 3. J Inherit Metab Dis. 2007. PMID: 17203377
Diagnosis and management of glutaric aciduria type I.
Barić I, Zschocke J, Christensen E, Duran M, Goodman SI, Leonard JV, Müller E, Morton DH, Superti-Furga A, Hoffmann GF. Barić I, et al. Among authors: muller e. J Inherit Metab Dis. 1998 Jun;21(4):326-40. doi: 10.1023/a:1005390105171. J Inherit Metab Dis. 1998. PMID: 9700590 Review.
Emergency treatment in glutaryl-CoA dehydrogenase deficiency.
Kölker S, Greenberg CR, Lindner M, Müller E, Naughten ER, Hoffmann GF. Kölker S, et al. Among authors: muller e. 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.
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: muller e. 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
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Müller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E. Hoffmann GF, et al. Among authors: muller e. Neuropediatrics. 1996 Jun;27(3):115-23. doi: 10.1055/s-2007-973761. Neuropediatrics. 1996. PMID: 8837070
3,046 results