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Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Chien YH, et al. Among authors: donner mg. Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Orphanet J Rare Dis. 2015. PMID: 26289392 Free PMC article. Review.
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
Huemer M, Carvalho DR, Brum JM, Ünal Ö, Coskun T, Weisfeld-Adams JD, Schrager NL, Scholl-Bürgi S, Schlune A, Donner MG, Hersberger M, Gemperle C, Riesner B, Ulmer H, Häberle J, Karall D. Huemer M, et al. Among authors: donner mg. J Inherit Metab Dis. 2016 May;39(3):331-340. doi: 10.1007/s10545-016-9928-y. Epub 2016 Apr 1. J Inherit Metab Dis. 2016. PMID: 27038030
[The clinical spectrum of urea cycle defects in adult patients].
Müller-Marbach AM, Keitel V, Göbel T, Jensen BE, Göbels S, Baur C, Schneitler S, Schneitler V, Behm P, Becker M, Brinkmeyer C, Foede M, Hüttig F, Beyer M, Breuer M, Filke S, Giesecke C, Haars U, Haes J, Heinzel-Pleines U, Kann S, Kocheril SJ, Mallach S, Sagert C, Qvartskhava N, Winzer R, Donner MG. Müller-Marbach AM, et al. Among authors: donner mg. Z Gastroenterol. 2011 Jul;49(12):1535-42. doi: 10.1055/s-0031-1281791. Epub 2011 Dec 2. Z Gastroenterol. 2011. PMID: 22139877 German.
31 results