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Journal Abstract Search

170 related items for PubMed ID: 9060147

  • 1.
    ; . PubMed ID:
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  • 2. 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; 46(10):1189-93. PubMed ID: 9322805
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 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 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
    [Abstract] [Full Text] [Related]

  • 9. Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
    Nasrallah F, Feki M, Kaabachi N.
    Pediatr Neurol; 2010 Mar 21; 42(3):163-71. PubMed ID: 20159424
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 21; 82(3):214-9. PubMed ID: 15234334
    [Abstract] [Full Text] [Related]

  • 12. Guanidinoacetate methyltransferase deficiency (GAMT).
    Gordon N.
    Brain Dev; 2010 Feb 21; 32(2):79-81. PubMed ID: 19289269
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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 Aug 08; 58(5-6):427-32. PubMed ID: 22783571
    [Abstract] [Full Text] [Related]

  • 15. 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 08; 58(5):914-22. PubMed ID: 8651275
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. [Diagnosis and treatment of brain creatine deficiency syndromes].
    Arias-Dimas A, Vilaseca MA, Artuch R, Ribes A, Campistol J.
    Rev Neurol; 2004 May 01; 43(5):302-8. PubMed ID: 16941429
    [Abstract] [Full Text] [Related]

  • 18. Simultaneous determination of guanidinoacetate, creatine and creatinine in urine and plasma by un-derivatized liquid chromatography-tandem mass spectrometry.
    Carling RS, Hogg SL, Wood TC, Calvin J.
    Ann Clin Biochem; 2008 Nov 01; 45(Pt 6):575-84. PubMed ID: 18782816
    [Abstract] [Full Text] [Related]

  • 19. Two new severe mutations causing guanidinoacetate methyltransferase deficiency.
    Carducci C, Leuzzi V, Carducci C, Prudente S, Mercuri L, Antonozzi I.
    Mol Genet Metab; 2000 Dec 01; 71(4):633-8. PubMed ID: 11136556
    [Abstract] [Full Text] [Related]

  • 20. Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency.
    Vodopiutz J, Item CB, Häusler M, Korall H, Bodamer OA.
    J Child Neurol; 2007 Jun 01; 22(6):773-4. PubMed ID: 17641269
    [Abstract] [Full Text] [Related]

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