| 1 | GLDC, NKH1
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| A Novel Glycine Decarboxylase Gene Mutation in an Indian Family With Nonketotic Hyperglycinemia.
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| Love JM, Prosser D, Love DR, Chintakindi KP, Dalal AB, Aggarwal S.
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| J Child Neurol Child Neurol. 2013 Jan 24. [Epub ahead of print]
2013
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| 2 | GLDC, NKH1
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| Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.
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| Brunel-Guitton C, Casey B, Coulter-Mackie M, Vallance H, Hewes D, Stockler-Ipsiroglu S, Mercimek-Mahmutoglu S.
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| Mol Genet Metab 103(2):193-6. doi: 10.1016/j.ymgme.2011.02.009. Epub 2011 Feb 22.
2011
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| 3 | GLDC, NKH1
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| A novel missense mutation in a neonate with nonketotic hyperglycinemia.
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| Meyer S, Acquaviva C, Shamdeen MG, Haas D, Vianey-Saban C.
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| Pediatr Neurol 43(5):363-7. doi: 10.1016/j.pediatrneurol.2010.05.025.
2010
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| 4 | GLDC, NKH1
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| Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
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| Kanno J, Hutchin T, Kamada F, Narisawa A, Aoki Y, Matsubara Y, Kure S.
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| J Med Genet 44(3):e69.
2007
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| 5 | GLDC, NKH1
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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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| 6 | GLDC, NKH1
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| Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia.
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| Sellner L, Edkins E, Greed L, Lewis B.
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| Mol Genet Metab 84(2):167-71. Epub 2004 Nov 23. 2005
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| 7 | GLDC, NKH1
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| Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.
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| Dinopoulos A, Kure S, Chuck G, Sato K, Gilbert DL, Matsubara Y, Degrauw T.
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| Neurology 64(7):1255-7. 2005
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| 8 | AMT, GLDC, NKH1, NKH2
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| Recurrent mutations in p- and t-proteins of the glycine cleavage complex and a novel t-protein mutation (n145i): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (nkh).
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| Toone JR, Applegarth DA, Coulter-Mackie MB, James ER.
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| Mol Genet Metab 72(4):322-5. 2001
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| 9 | NKH1, AMT, NKH2
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| Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
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| Nanao K, et al.
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| Hum Genet 93 : 655-658. 1994
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| 10 | GLDC, GLDCP, NKH1
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| Assignment of the true and processed genes for human glycine decarboxylase to 9p23-24 and 4q12.
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| Isobe M, et al.
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| Biochem Biophys Res Commun 203 : 1483-1487. 1994
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| 11 | NKH1, NKH2
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| Non-ketotic hyperglycinaemia : molecular lesion, diagnosis and pathophysiology.
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| Tada K, et al.
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| J Inherit Metab Dis 16 : 691-703. 1993
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| 12 | GLDC, NKH1
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| Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.
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| Kure S, et al.
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| J Clin Invest 90 : 160-164. 1992
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| 13 | NKH1
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| Nonketotic hyperglycinemia in a patient with the 9p-syndrome.
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| Burton BK, et al.
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| Am J Med Genet 32 : 504-505. 1989
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