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Journal Abstract Search

338 related items for PubMed ID: 16855203

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  • 3. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
    Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A.
    Mol Genet Metab; 2014 Jan; 111(1):16-25. PubMed ID: 24268530
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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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  • 8. Guanidinoacetate methyltransferase deficiency (GAMT).
    Gordon N.
    Brain Dev; 2010 Feb; 32(2):79-81. PubMed ID: 19289269
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  • 10. [Cerebral creatine deficiency syndromes].
    Malheiro R, Diogo L, Garcia P, Fineza I, Oliveira G.
    Acta Med Port; 2012 Feb; 25(6):389-98. PubMed ID: 23534590
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  • 11. [Diagnosis and treatment of brain creatine deficiency syndromes].
    Arias-Dimas A, Vilaseca MA, Artuch R, Ribes A, Campistol J.
    Rev Neurol; 2012 Feb; 43(5):302-8. PubMed ID: 16941429
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  • 13. Inborn errors of creatine metabolism and epilepsy.
    Leuzzi V, Mastrangelo M, Battini R, Cioni G.
    Epilepsia; 2013 Feb; 54(2):217-27. PubMed ID: 23157605
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  • 14. 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; 91(3):294-6. PubMed ID: 17466557
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  • 15. Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.
    Schulze A, Hoffmann GF, Bachert P, Kirsch S, Salomons GS, Verhoeven NM, Mayatepek E.
    Neurology; 2006 Aug 22; 67(4):719-21. PubMed ID: 16924036
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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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  • 17. Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
    Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV, Lotze T, Maranda B, Willis M, Abdenur JE, Chen E, O'Brien W, Wong LJ.
    Mol Genet Metab; 2009 Jan 14; 96(1):38-43. PubMed ID: 19027335
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  • 18. 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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  • 19. Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate.
    Mercimek-Mahmutoglu S, Salomons GS, Chan A.
    Pediatr Neurol; 2014 Jul 14; 51(1):133-7. PubMed ID: 24766785
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  • 20. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis.
    Stöckler S, Marescau B, De Deyn PP, Trijbels JM, Hanefeld F.
    Metabolism; 1997 Oct 14; 46(10):1189-93. PubMed ID: 9322805
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