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Journal Abstract Search

170 related items for PubMed ID: 12557293

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  • 3. Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.
    Schmidt A, Marescau B, Boehm EA, Renema WK, Peco R, Das A, Steinfeld R, Chan S, Wallis J, Davidoff M, Ullrich K, Waldschütz R, Heerschap A, De Deyn PP, Neubauer S, Isbrandt D.
    Hum Mol Genet; 2004 May 01; 13(9):905-21. PubMed ID: 15028668
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  • 6. Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
    Leuzzi V.
    J Child Neurol; 2002 Dec 01; 17 Suppl 3():3S89-97; discussion 3S97. PubMed ID: 12597058
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  • 7. Creatine deficiency in the brain: a new, treatable inborn error of metabolism.
    Stöckler S, Holzbach U, Hanefeld F, Marquardt I, Helms G, Requart M, Hänicke W, Frahm J.
    Pediatr Res; 1994 Sep 01; 36(3):409-13. PubMed ID: 7808840
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  • 8. Creatine deficiency syndromes.
    Schulze A.
    Mol Cell Biochem; 2003 Feb 01; 244(1-2):143-50. PubMed ID: 12701824
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  • 10. Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency.
    Torremans A, Marescau B, Possemiers I, Van Dam D, D'Hooge R, Isbrandt D, De Deyn PP.
    J Neurol Sci; 2005 Apr 15; 231(1-2):49-55. PubMed ID: 15792821
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  • 11. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.
    Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Marescau B, Knopp MV, De Deyn PP, Bremer HJ, Rating D.
    J Pediatr; 1997 Oct 15; 131(4):626-31. PubMed ID: 9386672
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  • 12. Guanidinoacetate methyltransferase deficiency: a newly recognized inborn error of creatine biosynthesis.
    Stöckler S, Hanefeld F.
    Wien Klin Wochenschr; 1997 Feb 14; 109(3):86-8. PubMed ID: 9060147
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  • 13. Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency.
    Viau KS, Ernst SL, Pasquali M, Botto LD, Hedlund G, Longo N.
    Mol Genet Metab; 2013 Nov 14; 110(3):255-62. PubMed ID: 24071436
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  • 16. [Diagnosis and treatment of brain creatine deficiency syndromes].
    Arias-Dimas A, Vilaseca MA, Artuch R, Ribes A, Campistol J.
    Rev Neurol; 2013 Nov 14; 43(5):302-8. PubMed ID: 16941429
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  • 19. Guanidinoacetate methyltransferase deficiency (GAMT).
    Gordon N.
    Brain Dev; 2010 Feb 14; 32(2):79-81. PubMed ID: 19289269
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  • 20. Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.
    Engelke UF, Tassini M, Hayek J, de Vries M, Bilos A, Vivi A, Valensin G, Buoni S, Zannolli R, Brussel W, Kremer B, Salomons GS, Veendrick-Meekes MJ, Kluijtmans LA, Morava E, Wevers RA.
    NMR Biomed; 2009 Jun 14; 22(5):538-44. PubMed ID: 19288536
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