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Journal Abstract Search

289 related items for PubMed ID: 15028668

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  • 4. Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle.
    Ensenauer R, Thiel T, Schwab KO, Tacke U, Stöckler-Ipsiroglu S, Schulze A, Hennig J, Lehnert W.
    Mol Genet Metab; 2004 Jul; 82(3):208-13. PubMed ID: 15234333
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  • 6. Lack of creatine in muscle and brain in an adult with GAMT deficiency.
    Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E.
    Ann Neurol; 2003 Feb; 53(2):248-51. PubMed ID: 12557293
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  • 7. 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; 22(5):538-44. PubMed ID: 19288536
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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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  • 13. The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10.
    Chae YJ, Chung CE, Kim BJ, Lee MH, Lee H.
    Genomics; 1998 Apr 01; 49(1):162-4. PubMed ID: 9570966
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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 01; 110(3):255-62. PubMed ID: 24071436
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  • 15. Guanidinoacetate methyltransferase (GAMT) deficiency in two Tunisian siblings: clinical and biochemical features.
    Nasrallah F, Kraoua I, Joncquel-Chevalier Curt M, Bout MA, Taieb SH, Feki M, Khouja N, Briand G, Kaabachi N.
    Clin Lab; 2012 Nov 01; 58(5-6):427-32. PubMed ID: 22783571
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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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