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Page 1
Mutation analysis in 54 propionic acidemia patients.
Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO. Kraus JP, et al. J Inherit Metab Dis. 2012 Jan;35(1):51-63. doi: 10.1007/s10545-011-9399-0. Epub 2011 Oct 27. J Inherit Metab Dis. 2012. PMID: 22033733
Gamma-hydroxybutyric acid.
Sass JO, Superti-Furga A. Sass JO, et al. N Engl J Med. 2005 Oct 13;353(15):1632-3. doi: 10.1056/NEJMc052046. N Engl J Med. 2005. PMID: 16221793 No abstract available.
Propionic acidemia: neonatal versus selective metabolic screening.
Grünert SC, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO. Grünert SC, et al. J Inherit Metab Dis. 2012 Jan;35(1):41-9. doi: 10.1007/s10545-011-9419-0. Epub 2011 Dec 2. J Inherit Metab Dis. 2012. PMID: 22134541
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
Grünert SC, Müllerleile S, De Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO. Grünert SC, et al. Orphanet J Rare Dis. 2013 Jan 10;8:6. doi: 10.1186/1750-1172-8-6. Orphanet J Rare Dis. 2013. PMID: 23305374 Free PMC article.
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
Kranendijk M, Salomons GS, Gibson KM, Aktuglu-Zeybek C, Bekri S, Christensen E, Clarke J, Hahn A, Korman SH, Mejaski-Bosnjak V, Superti-Furga A, Vianey-Saban C, van der Knaap MS, Jakobs C, Struys EA. Kranendijk M, et al. J Inherit Metab Dis. 2009 Dec;32(6):713. doi: 10.1007/s10545-009-1282-x. Epub 2009 Oct 10. J Inherit Metab Dis. 2009. PMID: 19821142
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W, Prokisch H. Mayr JA, et al. Am J Hum Genet. 2012 Feb 10;90(2):314-20. doi: 10.1016/j.ajhg.2011.12.005. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284826 Free PMC article.
389 results