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Journal Abstract Search

452 related items for PubMed ID: 11749046

  • 1. Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation.
    Schulze A, Ebinger F, Rating D, Mayatepek E.
    Mol Genet Metab; 2001 Dec; 74(4):413-9. PubMed ID: 11749046
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  • 3. 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; 82(3):214-9. PubMed ID: 15234334
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  • 4. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
    Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, Appleton R, Araújo HC, Duran M, Ensenauer R, Fernandez-Alvarez E, Garcia P, Grolik C, Item CB, Leuzzi V, Marquardt I, Mühl A, Saelke-Kellermann RA, Salomons GS, Schulze A, Surtees R, van der Knaap MS, Vasconcelos R, Verhoeven NM, Vilarinho L, Wilichowski E, Jakobs C.
    Neurology; 2006 Aug 08; 67(3):480-4. PubMed ID: 16855203
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  • 6. Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology.
    Verbruggen KT, Sijens PE, Schulze A, Lunsing RJ, Jakobs C, Salomons GS, van Spronsen FJ.
    Mol Genet Metab; 2007 Jul 08; 91(3):294-6. PubMed ID: 17466557
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  • 8. 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 08; 22(5):538-44. PubMed ID: 19288536
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  • 10. 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 Jun 08; 58(5-6):427-32. PubMed ID: 22783571
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  • 12. Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.
    Mercimek-Mahmutoglu S, Dunbar M, Friesen A, Garret S, Hartnett C, Huh L, Sinclair G, Stockler S, Wellington S, Pouwels PJ, Salomons GS, Jakobs C.
    Mol Genet Metab; 2012 Jan 08; 105(1):155-8. PubMed ID: 22019491
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  • 13. High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?
    van Spronsen FJ, Reijngoud DJ, Verhoeven NM, Soorani-Lunsing RJ, Jakobs C, Sijens PE.
    Mol Genet Metab; 2006 Nov 08; 89(3):274-6. PubMed ID: 16580861
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  • 16. Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies.
    Carducci C, Birarelli M, Leuzzi V, Carducci C, Battini R, Cioni G, Antonozzi I.
    Clin Chem; 2002 Oct 08; 48(10):1772-8. PubMed ID: 12324495
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  • 17. 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. Disorders of creatine transport and metabolism.
    Longo N, Ardon O, Vanzo R, Schwartz E, Pasquali M.
    Am J Med Genet C Semin Med Genet; 2011 Feb 15; 157C(1):72-8. PubMed ID: 21308988
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  • 19. 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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