| 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, GATM, SLC6A8
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| Expression and function of AGAT, GAMT and CT1 in the mammalian brain.
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| Braissant O, Bachmann C, Henry H.
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| Subcell Biochem 46:67-81. Review.
2007
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| 3 | 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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| 4 | GAMT
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| A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.
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| Leuzzi V, Carducci C, Carducci C, Matricardi M, Bianchi MC, Di Sabato ML, Artiola C, Antonozzi I.
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| Mol Genet Metab 87(1):88-90. Epub 2005 Nov 15. 2006
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| 5 | GAMT
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| Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts.
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| Almeida LS, Rosenberg EH, Martinez-Munoz C, Verhoeven NM, Vilarinho L, Jakobs C, Salomons GS.
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| Mol Genet Metab 89(4):392-4. Epub 2006 Aug 8. 2006
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| 6 | 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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| 7 | 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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| 8 | GAMT
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| The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10.
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| Chae YJ, et al.
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| Genomics 49 : 162-164. 1998
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| 9 | GAMT
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| The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice.
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| Jenne DE, Olsen AS, Zimmer M.
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| Biochem Biophys Res Commun 238(3):723-7. 1997
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| 10 | GAMT
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| Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.
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| Stockler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K.
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| Am J Hum Genet 58(5):914-22. 1996
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| 11 | GAMT
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| Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.
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| Isbrandt D, et al.
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| Biochim Biophys Acta 1264 : 265-267. 1995
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