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289 related items for PubMed ID: 15028668

  • 1. 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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  • 2. 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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  • 3. Phosphorylated guanidinoacetate partly compensates for the lack of phosphocreatine in skeletal muscle of mice lacking guanidinoacetate methyltransferase.
    Kan HE, Renema WK, Isbrandt D, Heerschap A.
    J Physiol; 2004 Oct 01; 560(Pt 1):219-29. PubMed ID: 15284341
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  • 5. MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency.
    Renema WK, Schmidt A, van Asten JJ, Oerlemans F, Ullrich K, Wieringa B, Isbrandt D, Heerschap A.
    Magn Reson Med; 2003 Nov 01; 50(5):936-43. PubMed ID: 14587004
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  • 11. Catalytic mechanism of guanidinoacetate methyltransferase: crystal structures of guanidinoacetate methyltransferase ternary complexes.
    Komoto J, Yamada T, Takata Y, Konishi K, Ogawa H, Gomi T, Fujioka M, Takusagawa F.
    Biochemistry; 2004 Nov 16; 43(45):14385-94. PubMed ID: 15533043
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  • 12. The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice.
    Jenne DE, Olsen AS, Zimmer M.
    Biochem Biophys Res Commun; 1997 Sep 29; 238(3):723-7. PubMed ID: 9325156
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  • 14. 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 29; 110(3):255-62. PubMed ID: 24071436
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  • 16. 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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  • 18. Characterization of seven novel mutations in seven patients with GAMT deficiency.
    Item CB, Mercimek-Mahmutoglu S, Battini R, Edlinger-Horvat C, Stromberger C, Bodamer O, Mühl A, Vilaseca MA, Korall H, Stöckler-Ipsiroglu S.
    Hum Mutat; 2004 May 14; 23(5):524. PubMed ID: 15108290
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  • 19. A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.
    Leuzzi V, Carducci C, Carducci C, Matricardi M, Bianchi MC, Di Sabato ML, Artiola C, Antonozzi I.
    Mol Genet Metab; 2006 Jan 14; 87(1):88-90. PubMed ID: 16293431
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  • 20. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.
    Almeida LS, Verhoeven NM, Roos B, Valongo C, Cardoso ML, Vilarinho L, Salomons GS, Jakobs C.
    Mol Genet Metab; 2004 Jul 14; 82(3):214-9. PubMed ID: 15234334
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