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Volumn 64, Issue 7, 2005, Pages 1255-1257

Glycine decarboxylase mutations: A distinctive phenotype of nonketotic hyperglycinemia in adults

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYLYASE; GLYCINE DEHYDROGENASE (DECARBOXYLATING); UNCLASSIFIED DRUG;

EID: 16844383873     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000156800.23776.40     Document Type: Article
Times cited : (34)

References (10)
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    • Kure S, Kojima K, Ichinohe A, et al. Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia. Ann Neurol 2002;52:643-646.
    • (2002) Ann Neurol , vol.52 , pp. 643-646
    • Kure, S.1    Kojima, K.2    Ichinohe, A.3
  • 2
    • 0026648330 scopus 로고
    • Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
    • Kure S, Takayanagi M, Narisawa K, Tada K, Leisti J. Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. J Clin Invest 1992;90:160-164.
    • (1992) J Clin Invest , vol.90 , pp. 160-164
    • Kure, S.1    Takayanagi, M.2    Narisawa, K.3    Tada, K.4    Leisti, J.5
  • 3
    • 0020590463 scopus 로고
    • Nonketotic hyperglycinemia in two retarded adults: A mild form of infantile nonketotic hyperglycinemia
    • Flannery DB, Pellock J, Bousounis D, Hunt P, Nance C, Wolf B. Nonketotic hyperglycinemia in two retarded adults: a mild form of infantile nonketotic hyperglycinemia. Neurology 1983;33:1064-1066.
    • (1983) Neurology , vol.33 , pp. 1064-1066
    • Flannery, D.B.1    Pellock, J.2    Bousounis, D.3    Hunt, P.4    Nance, C.5    Wolf, B.6
  • 4
    • 0018237041 scopus 로고
    • Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays
    • Frazier DM, Summer GK, Chamberlin HR. Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays. Am J Dis Child 1978;132:777-781.
    • (1978) Am J Dis Child , vol.132 , pp. 777-781
    • Frazier, D.M.1    Summer, G.K.2    Chamberlin, H.R.3
  • 5
    • 0033985498 scopus 로고    scopus 로고
    • Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia
    • Neuberger JM, Schweitzer S, Rolland MO, Burghard R. Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia. J Inherit Metab Dis 2000;23:22-26.
    • (2000) J Inherit Metab Dis , vol.23 , pp. 22-26
    • Neuberger, J.M.1    Schweitzer, S.2    Rolland, M.O.3    Burghard, R.4
  • 6
    • 0022358195 scopus 로고
    • Juvenile non-ketotic hyperglycinemia in three siblings
    • Cole DEC, Meek DC. Juvenile non-ketotic hyperglycinemia in three siblings. J Inherit Metab Dis 1985;2:123-124.
    • (1985) J Inherit Metab Dis , vol.2 , pp. 123-124
    • Cole, D.E.C.1    Meek, D.C.2
  • 7
    • 0035713222 scopus 로고    scopus 로고
    • Modulation of defensive behavior by periaqueductal gray NMDA/glycine-B receptor
    • Carobrez AP, Teixeira KV, Graeft FG. Modulation of defensive behavior by periaqueductal gray NMDA/glycine-B receptor. Neurosci Biobehav Rev 2001;25:697-709.
    • (2001) Neurosci Biobehav Rev , vol.25 , pp. 697-709
    • Carobrez, A.P.1    Teixeira, K.V.2    Graeft, F.G.3
  • 8
    • 0021015809 scopus 로고
    • Nonketotic hyperglycinemia: Two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system
    • Hayasaka K, Tada K, Kikuchi G, Winter S, Nyhan WL. Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system. Pediatr Res 1983;17:967-970.
    • (1983) Pediatr Res , vol.17 , pp. 967-970
    • Hayasaka, K.1    Tada, K.2    Kikuchi, G.3    Winter, S.4    Nyhan, W.L.5
  • 9
    • 0036772660 scopus 로고    scopus 로고
    • Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia)
    • Korman SH, Gutman A. Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia). Dev Med Child Neurol 2002;44:712-720.
    • (2002) Dev Med Child Neurol , vol.44 , pp. 712-720
    • Korman, S.H.1    Gutman, A.2
  • 10
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    • Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts
    • Kure S, Narisawa K, Tada K. Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts. J Pediatr 1992;120:95-98.
    • (1992) J Pediatr , vol.120 , pp. 95-98
    • Kure, S.1    Narisawa, K.2    Tada, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.