| 1 | AMT, GCE2, GCE3, GLDC
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| Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.
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| Azize NA, Ngah WZ, Othman Z, Md Desa N, Chin CB, Md Yunus Z, Mohan A, Hean TS, Syed Zakaria SZ, Lock-Hock N.
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| J Hum Genet 59(11):593-7. doi: 10.1038/jhg.2014.69.
2014
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| 2 | 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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| 3 | 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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| 4 | GCE2, GLDC
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| A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
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| Boneh A, Korman SH, Sato K, Kanno J, Matsubara Y, Lerer I, Ben-Neriah Z, Kure S.
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| J Hum Genet 50(5):230-4.
2005
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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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