| 1 | GAMT, GAMTD
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| Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency.
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| Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV, Lotze T, Maranda B, Willis M, Abdenur JE, Chen E, O'Brien W, Wong LJ.
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| Mol Genet Metab 96(1):38-43. Epub 2008 Nov 21.
2009
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| 2 | GAMT, GAMTD
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| Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.
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| Morris AA, Appleton RE, Power B, Isherwood DM, Abernethy LJ, Taylor RW, Turnbull DM, Verhoeven NM, Salomons GS, Jakobs C.
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| J Inherit Metab Dis 30(1):100. Epub 2006 Dec 14. 2007
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| 3 | GAMT, GAMTD
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| Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle.
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| Ensenauer R, Thiel T, Schwab KO, Tacke U, Stockler-Ipsiroglu S, Schulze A, Hennig J, Lehnert W.
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| Mol Genet Metab 82(3):208-13. 2004
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| 4 | GAMT, GAMTD
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| Two new severe mutations causing guanidinoacetate methyltransferase deficiency
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| Carducci C, Leuzzi V, Carducci C, Prudente S, Mercuri L, Antonozzi I.
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| Mol Genet Metab 71(4):633-8. 2000
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| 5 | GAMTD
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| Guanidinoacetate methyltransferase deficiency : the first inborn error of creatine metabolism in man.
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| Stšckler S, et al.
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| Am J Hum Genet 58 : 914-922. 1996
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