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Journal Abstract Search

274 related items for PubMed ID: 9322805

  • 1. 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]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 14; 131(4):626-31. PubMed ID: 9386672
    [Abstract] [Full Text] [Related]

  • 4. 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 14; 74(4):413-9. PubMed ID: 11749046
    [Abstract] [Full Text] [Related]

  • 5. 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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  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall.
    Verhoeven NM, Guérand WS, Struys EA, Bouman AA, van der Knaap MS, Jakobs C.
    J Inherit Metab Dis; 2000 Dec 21; 23(8):835-40. PubMed ID: 11196109
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

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

  • 11. 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]

  • 12. 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 May 01; 58(5-6):427-32. PubMed ID: 22783571
    [Abstract] [Full Text] [Related]

  • 13. Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.
    O'Rourke DJ, Ryan S, Salomons G, Jakobs C, Monavari A, King MD.
    Dev Med Child Neurol; 2009 May 01; 51(5):404-7. PubMed ID: 19388150
    [Abstract] [Full Text] [Related]

  • 14. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
    Stockler-Ipsiroglu S, van Karnebeek CD.
    Semin Neurol; 2014 Jul 01; 34(3):350-6. PubMed ID: 25192512
    [Abstract] [Full Text] [Related]

  • 15. Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism.
    Ilas J, Mühl A, Stöckler-Ipsiroglu S.
    Clin Chim Acta; 2000 Jan 05; 290(2):179-88. PubMed ID: 10660808
    [Abstract] [Full Text] [Related]

  • 16. 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 05; 111(1):16-25. PubMed ID: 24268530
    [Abstract] [Full Text] [Related]

  • 17. Creatine deficiency syndromes.
    Schulze A.
    Mol Cell Biochem; 2003 Feb 05; 244(1-2):143-50. PubMed ID: 12701824
    [Abstract] [Full Text] [Related]

  • 18. 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 05; 82(3):214-9. PubMed ID: 15234334
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Biochemical and clinical characteristics of creatine deficiency syndromes.
    Sykut-Cegielska J, Gradowska W, Mercimek-Mahmutoglu S, Stöckler-Ipsiroglu S.
    Acta Biochim Pol; 2004 Aug 08; 51(4):875-82. PubMed ID: 15625559
    [Abstract] [Full Text] [Related]

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