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Page 1
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Hörster F, Tuncel AT, Gleich F, Plessl T, Froese SD, Garbade SF, Kölker S, Baumgartner MR; Additional Contributors from E-IMD. Hörster F, et al. Among authors: garbade sf. J Inherit Metab Dis. 2021 Jan;44(1):193-214. doi: 10.1002/jimd.12297. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32754920 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: garbade sf. 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
Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control.
Lindner M, Gramer G, Garbade SF, Burgard P. Lindner M, et al. Among authors: garbade sf. J Inherit Metab Dis. 2009 Aug;32(4):514-22. doi: 10.1007/s10545-009-1070-7. Epub 2009 Jun 10. J Inherit Metab Dis. 2009. PMID: 19513811 Free article. Clinical Trial.
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S. Hörster F, et al. Among authors: garbade sf. J Inherit Metab Dis. 2009 Oct;32(5):630. doi: 10.1007/s10545-009-1189-6. Epub 2009 Jul 31. J Inherit Metab Dis. 2009. PMID: 19642010
129 results