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Volumn 27, Issue 3, 2004, Pages 417-422

Glycine encephalopathy (nonketotic hyperglycinaemia): Review and update

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; BRAIN DISEASE; DIAGNOSTIC TEST; DISEASE COURSE; HUMAN; HYPERGLYCINEMIA; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; PRENATAL DIAGNOSIS; PROGNOSIS; REVIEW; WORKSHOP;

EID: 2942592526     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000031222.38328.59     Document Type: Review
Times cited : (64)

References (16)
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    • Non-concordance of CVS and liver glycine cleavage enzyme in 3 families with NKH leading to false negative prenatal diagnosis
    • Applegarth DA, Toone JR, Rolland MO, Black SH, Yim DKC, Bemis G (2000) Non-concordance of CVS and liver glycine cleavage enzyme in 3 families with NKH leading to false negative prenatal diagnosis. Prenat Diagn 20: 367-370.
    • (2000) Prenat. Diagn. , vol.20 , pp. 367-370
    • Applegarth, D.A.1    Toone, J.R.2    Rolland, M.O.3    Black, S.H.4    Yim, D.K.C.5    Bemis, G.6
  • 3
    • 0030248468 scopus 로고    scopus 로고
    • Diagnostic clues and outcome of early treatment of NKH
    • Boneh A, Degani Y, Harani M (1996) Diagnostic clues and outcome of early treatment of NKH. Pediatr Neurol 15: 137-141.
    • (1996) Pediatr. Neurol. , vol.15 , pp. 137-141
    • Boneh, A.1    Degani, Y.2    Harani, M.3
  • 4
    • 0037739996 scopus 로고    scopus 로고
    • Concerns regarding transience and heterozygosity in neonatal hyperglycinemia
    • Hamosh A, Van Hove JLK (2003) Concerns regarding transience and heterozygosity in neonatal hyperglycinemia. Ann Neurol 53: 685.
    • (2003) Ann. Neurol. , vol.53 , pp. 685
    • Hamosh, A.1    Van Hove, J.L.K.2
  • 7
    • 2942604020 scopus 로고    scopus 로고
    • Seizures and brain malformations in model mice for glycine encephalopathy
    • Ichinohe A, Kojima K, Aoki Y, et al (2003) Seizures and brain malformations in model mice for glycine encephalopathy. J Inherit Metab Dis 26(2): 65.
    • (2003) J. Inherit. Metab. Dis. , vol.26 , Issue.2 , pp. 65
    • Ichinohe, A.1    Kojima, K.2    Aoki, Y.3
  • 8
    • 2942602433 scopus 로고    scopus 로고
    • Activity, convulsiveness, aggressiveness, and anxiety in transgenic mice with altered glycine concentrations in central nervous system
    • Kojima K, Ichinohe A, Aoki Y, et al (2003) Activity, convulsiveness, aggressiveness, and anxiety in transgenic mice with altered glycine concentrations in central nervous system. J Inherit Metab Dis 26(2): 77.
    • (2003) J. Inherit. Metab. Dis. , vol.26 , Issue.2 , pp. 77
    • Kojima, K.1    Ichinohe, A.2    Aoki, Y.3
  • 9
    • 2942514178 scopus 로고    scopus 로고
    • A novel glycine encephalopathy (NKH) variant: Absent or transient symptoms but persisting biochemical features
    • Korman SH, Boneh A, Gutman A, et al (2003) A novel glycine encephalopathy (NKH) variant: absent or transient symptoms but persisting biochemical features. J Inherit Metab Dis 26(2): 66.
    • (2003) J. Inherit. Metab. Dis. , vol.26 , Issue.2 , pp. 66
    • Korman, S.H.1    Boneh, A.2    Gutman, A.3
  • 10
    • 0036830348 scopus 로고    scopus 로고
    • Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia
    • Kure S, Kojima K, Ichinohe A, et al (2002) Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia. Ann Neurol 52: 643-646.
    • (2002) Ann. Neurol. , vol.52 , pp. 643-646
    • Kure, S.1    Kojima, K.2    Ichinohe, A.3
  • 12
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    • Non-ketotic hyperglycinemia: Molecular lesion, diagnosis and pathophysiology
    • Tada K, Kure SJ (1993) Non-ketotic hyperglycinemia: molecular lesion, diagnosis and pathophysiology. J Inherit Metab Dis 16: 691-703.
    • (1993) J. Inherit. Metab. Dis. , vol.16 , pp. 691-703
    • Tada, K.1    Kure, S.J.2
  • 13
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    • Biochemical and molecular investigations of patients with nonketotic hyperglycinemia (NKH)
    • Toone JR, Applegarth DA, Coulter-Mackie MB, James ER (2000) Biochemical and molecular investigations of patients with nonketotic hyperglycinemia (NKH). Mol Genet Metab 70: 116-121.
    • (2000) Mol. Genet. Metab. , vol.70 , pp. 116-121
    • Toone, J.R.1    Applegarth, D.A.2    Coulter-Mackie, M.B.3    James, E.R.4
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    • Prenatal diagnosis of nonketotic hyperglycinemia: A 13-year experience, from enzymatic to molecular analysis
    • Vianey Saban C, Chevalier-Porst F, Froissart R, Rolland MO (2003) Prenatal diagnosis of nonketotic hyperglycinemia: a 13-year experience, from enzymatic to molecular analysis. J Inherit Metab Dis 26(2): 82.
    • (2003) J. Inherit. Metab. Dis. , vol.26 , Issue.2 , pp. 82
    • Vianey Saban, C.1    Chevalier-Porst, F.2    Froissart, R.3    Rolland, M.O.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.