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Journal Abstract Search

196 related items for PubMed ID: 8813986

  • 1. Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.
    Stöckler S, Hanefeld F, Frahm J.
    Lancet; 1996 Sep 21; 348(9030):789-90. PubMed ID: 8813986
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  • 4. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.
    Stöckler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K.
    Am J Hum Genet; 1996 May 21; 58(5):914-22. PubMed ID: 8651275
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  • 5. 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 21; 82(3):208-13. PubMed ID: 15234333
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  • 6. Guanidinoacetate methyltransferase deficiency: new clinical features.
    Ganesan V, Johnson A, Connelly A, Eckhardt S, Surtees RA.
    Pediatr Neurol; 1997 Sep 21; 17(2):155-7. PubMed ID: 9367297
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  • 8. 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 21; 36(3):409-13. PubMed ID: 7808840
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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 21; 131(4):626-31. PubMed ID: 9386672
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  • 14. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism.
    Stromberger C, Bodamer OA, Stöckler-Ipsiroglu S.
    J Inherit Metab Dis; 2003 Oct 21; 26(2-3):299-308. PubMed ID: 12889668
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  • 15. Therapeutic trial of arginine restriction in creatine deficiency syndrome.
    Schulze A, Mayatepek E, Bachert P, Marescau B, De Deyn PP, Rating D.
    Eur J Pediatr; 1998 Jul 21; 157(7):606-7. PubMed ID: 9686828
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  • 16. 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 21; 74(4):413-9. PubMed ID: 11749046
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  • 17. 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 21; 110(3):255-62. PubMed ID: 24071436
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  • 18. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
    Stockler-Ipsiroglu S, van Karnebeek CD.
    Semin Neurol; 2014 Jul 21; 34(3):350-6. PubMed ID: 25192512
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  • 19. Creatine deficiency syndromes.
    Schulze A.
    Mol Cell Biochem; 2003 Feb 21; 244(1-2):143-50. PubMed ID: 12701824
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  • 20. Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study.
    Bianchi MC, Tosetti M, Battini R, Leuzzi V, Alessandri' MG, Carducci C, Antonozzi I, Cioni G.
    AJNR Am J Neuroradiol; 2007 Mar 21; 28(3):548-54. PubMed ID: 17353334
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