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Journal Abstract Search

57 related items for PubMed ID: 9570966

  • 1. The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10.
    Chae YJ, Chung CE, Kim BJ, Lee MH, Lee H.
    Genomics; 1998 Apr 01; 49(1):162-4. PubMed ID: 9570966
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  • 4. Phosphorylated guanidinoacetate partly compensates for the lack of phosphocreatine in skeletal muscle of mice lacking guanidinoacetate methyltransferase.
    Kan HE, Renema WK, Isbrandt D, Heerschap A.
    J Physiol; 2004 Oct 01; 560(Pt 1):219-29. PubMed ID: 15284341
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  • 5. Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency.
    Torremans A, Marescau B, Possemiers I, Van Dam D, D'Hooge R, Isbrandt D, De Deyn PP.
    J Neurol Sci; 2005 Apr 15; 231(1-2):49-55. PubMed ID: 15792821
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  • 8. 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 15; 82(3):208-13. PubMed ID: 15234333
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  • 9. Characterization of seven novel mutations in seven patients with GAMT deficiency.
    Item CB, Mercimek-Mahmutoglu S, Battini R, Edlinger-Horvat C, Stromberger C, Bodamer O, Mühl A, Vilaseca MA, Korall H, Stöckler-Ipsiroglu S.
    Hum Mutat; 2004 May 15; 23(5):524. PubMed ID: 15108290
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  • 11. A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.
    Leuzzi V, Carducci C, Carducci C, Matricardi M, Bianchi MC, Di Sabato ML, Artiola C, Antonozzi I.
    Mol Genet Metab; 2006 Jan 15; 87(1):88-90. PubMed ID: 16293431
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  • 13. Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.
    Isbrandt D, von Figura K.
    Biochim Biophys Acta; 1995 Dec 27; 1264(3):265-7. PubMed ID: 8547310
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  • 16. 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 27; 22(6):773-4. PubMed ID: 17641269
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  • 18. 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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  • 20. 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 22; 91(3):294-6. PubMed ID: 17466557
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