Citations for
1AMT, GCE1, GCE2, GCE3, GCSH, GLDC
Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).
Kure S.
Brain Dev 33(9):753-7. doi: 10.1016/j.braindev.2011.03.001. Review. 2011
2GCE1, GCSH
Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis.
Pardal-Fernández JM, Carrascosa-Romero MC, de Cabo-de la Vega C, Iniesta-López I, Gil-Pons E, Martínez-Gutiérrez A.
Epileptic Disord 11(1):48-53. doi: 10.1684/epd.2009.0249. 2009
3AMT, GCE1, GCE2, GCE3, GCSH, GLDC
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
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.
Hum Mutat 27(4):343-52. 2006
4GCE1, GCE2, GCSH, GLDC
Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.
Kure S, Kojima K, Ichinohe A, Maeda T, Kalmanchey R, Fekete G, Berg SZ, Filiano J, Aoki Y, Suzuki Y, Izumi T, Matsubara Y.
Ann Neurol 52(5):643-6. 2002
5GCE1, GCSH
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.
Kure S, Kojima K, Kudo T, Kanno K, Aoki Y, Suzuki Y, Shinka T, Sakata Y, Narisawa K, Matsubara Y.
J Hum Genet 46(7):378-84. 2001