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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
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. Among authors: kraus jp. 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
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP, Janosík M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Kraus JP, et al. Hum Mutat. 1999;13(5):362-75. doi: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10338090 Review.
Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.
Kraus JP, Hasek J, Kozich V, Collard R, Venezia S, Janosíková B, Wang J, Stabler SP, Allen RH, Jakobs C, Finn CT, Chien YH, Hwu WL, Hegele RA, Mudd SH. Kraus JP, et al. Mol Genet Metab. 2009 Aug;97(4):250-9. doi: 10.1016/j.ymgme.2009.04.001. Epub 2009 Apr 9. Mol Genet Metab. 2009. PMID: 19428278 Free PMC article.
162 results