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Journal Abstract Search

192 related items for PubMed ID: 10660808

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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
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  • 3. 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; 58(5):914-22. PubMed ID: 8651275
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  • 6. Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies.
    Carducci C, Birarelli M, Leuzzi V, Carducci C, Battini R, Cioni G, Antonozzi I.
    Clin Chem; 2002 Oct; 48(10):1772-8. PubMed ID: 12324495
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  • 7. MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency.
    Renema WK, Schmidt A, van Asten JJ, Oerlemans F, Ullrich K, Wieringa B, Isbrandt D, Heerschap A.
    Magn Reson Med; 2003 Nov; 50(5):936-43. PubMed ID: 14587004
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  • 10. Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.
    Berends LM, Struys EA, Roos B, Holwerda U, Jansen EEW, Salomons GS, Wamelink MMC.
    JIMD Rep; 2017 Nov; 37():13-17. PubMed ID: 28220408
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  • 11. Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development.
    Hanna-El-Daher L, Béard E, Henry H, Tenenbaum L, Braissant O.
    Neurobiol Dis; 2015 Jul; 79():14-27. PubMed ID: 25896543
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  • 14. 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; 23(8):835-40. PubMed ID: 11196109
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  • 16. 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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  • 18. Creatine deficiency syndromes.
    Schulze A.
    Mol Cell Biochem; 2003 Feb 21; 244(1-2):143-50. PubMed ID: 12701824
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