| 1 | AMT, GCE1, GCE2, GCE3, GCSH, GLDC
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| Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).
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| Kure S.
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| Brain Dev 33(9):753-7. doi: 10.1016/j.braindev.2011.03.001. Review.
2011
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| 2 | AMT, GCSH, GLDC
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| Glycine cleavage enzyme complex: molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts.
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| Zay A, Choy FY, Patrick C, Sinclair G.
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| Biochem Cell Biol 89(3):299-307. doi: 10.1139/O10-156.
2011
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| 3 | GCE1, GCSH
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| Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.
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| Pardal-Fernández JM, Carrascosa-Romero MC, de Cabo-de la Vega C, Iniesta-López I, Gil-Pons E, Martínez-Gutiérrez A.
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| Epileptic Disord 11(1):48-53. doi: 10.1684/epd.2009.0249.
2009
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| 4 | AMT, GCE1, GCE2, GCE3, GCSH, GLDC
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| Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
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| Kure S, Kato K, Dinopoulos A, Gail C, DeGrauw TJ, Christodoulou J, Bzduch V, Kalmanchey R, Fekete G, Trojovsky A, Plecko B, Breningstall G, Tohyama J, Aoki Y, Matsubara Y.
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| Hum Mutat 27(4):343-52.
2006
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| 5 | GCE1, GCE2, GCSH, GLDC
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| Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.
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| Kure S, Kojima K, Ichinohe A, Maeda T, Kalmanchey R, Fekete G, Berg SZ, Filiano J, Aoki Y, Suzuki Y, Izumi T, Matsubara Y.
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| Ann Neurol 52(5):643-6.
2002
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| 6 | GCE1, GCSH
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| Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.
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| Kure S, Kojima K, Kudo T, Kanno K, Aoki Y, Suzuki Y, Shinka T, Sakata Y, Narisawa K, Matsubara Y.
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| J Hum Genet 46(7):378-84. 2001
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| 7 | GAN, GCSH, ATMIN
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| The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
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| Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tuysuz B, Landrieu P, Hentati F, Koenig M.
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| Nat Genet 26(3):370-4. 2000
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| 8 | GCSH
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| The primary structure of human H-protein of the glycine cleavage system deduced by cDNA cloning.
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| Fujiwara K, Okamura-Ikeda K, Hayasaka K, Motokawa Y.
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| Biochem Biophys Res Commun 176(2):711-6. 1991
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| 9 | GCSH
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| The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias.
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| Koyata H, Hiraga K.
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| Am J Hum Genet 48(2):351-61. 1991
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| 10 | GCSH
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| Cloning of cDNA encoding human H-protein, a constituent of the glycine cleavage system.
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| Hiraga K, Kure S, Yamamoto M, Ishiguro Y, Suzuki T.
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| Biochem Biophys Res Commun 151(2):758-62. 1988
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