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Volumn 61, Issue 5, 2003, Pages 642-647

Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: A new phenotype

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; 5 METHYLTETRAHYDROFOLIC ACID; 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALPHA INTERFERON; BIOPTERIN; CYANOCOBALAMIN; DNA; FOLIC ACID DERIVATIVE; FOLINIC ACID; GAMMA INTERFERON; GLUCOSE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HOMOVANILLIC ACID; METHYLENETETRAHYDROFOLATE DEHYDROGENASE; NEOPTERIN; PTERIN DERIVATIVE; TETRAHYDROBIOPTERIN; TUMOR NECROSIS FACTOR ALPHA;

EID: 0041834652     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000082726.08631.E7     Document Type: Article
Times cited : (102)

References (26)
  • 1
    • 0021336060 scopus 로고
    • A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
    • Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 1984;15:49-54.
    • (1984) Ann Neurol , vol.15 , pp. 49-54
    • Aicardi, J.1    Goutières, F.2
  • 2
    • 10944263734 scopus 로고    scopus 로고
    • Aicardi-Goutières syndrome: Special type early-onset encephalopathy
    • Aicardi J. Aicardi-Goutières syndrome: special type early-onset encephalopathy. Eur J Paediatr Neurol 2002; 6(suppl A): A1-7.
    • (2002) Eur J Paediatr Neurol , vol.6 , Issue.SUPPL. A
    • Aicardi, J.1
  • 4
    • 10944240851 scopus 로고    scopus 로고
    • Aicardi-Goutières syndrome: A description of 21 new cases and a comparison with the literature
    • Lanzi G, Fazzi E, D'Arrigo S. Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature. Eur J Paediatr Neurol 2002;6(suppl A):A9-22.
    • (2002) Eur J Paediatr Neurol , vol.6 , Issue.SUPPL. A
    • Lanzi, G.1    Fazzi, E.2    D'Arrigo, S.3
  • 5
    • 4244215954 scopus 로고    scopus 로고
    • Interferon and Aicardi-Goutières syndrome
    • discussion A55-48, A77-86
    • Lebon P, Meritet JF, Krivine A, Rozenberg F. Interferon and Aicardi-Goutières syndrome. Eur J Paediatr Neurol 2002;6(suppl A): A47-53; discussion A55-48, A77-86.
    • (2002) Eur J Paediatr Neurol , vol.6 , Issue.SUPPL. A
    • Lebon, P.1    Meritet, J.F.2    Krivine, A.3    Rozenberg, F.4
  • 6
    • 0022416113 scopus 로고
    • Cranial computerized tomography in dihydropteridine reductase deficiency
    • Longhi R, Valsasina R, Butte C, et al. Cranial computerized tomography in dihydropteridine reductase deficiency. J Inherit Metab Dis 1985;8:109-112.
    • (1985) J Inherit Metab Dis , vol.8 , pp. 109-112
    • Longhi, R.1    Valsasina, R.2    Butte, C.3
  • 7
    • 0024565246 scopus 로고
    • Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy
    • Woody RC, Brewster MA, Glasier C. Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy. Neurology 1989;39:673-675.
    • (1989) Neurology , vol.39 , pp. 673-675
    • Woody, R.C.1    Brewster, M.A.2    Glasier, C.3
  • 8
    • 0014591579 scopus 로고
    • Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification
    • Lanzkowsky P, Erlandson ME, Bezan AI. Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification. Blood 1969;34:452-465.
    • (1969) Blood , vol.34 , pp. 452-465
    • Lanzkowsky, P.1    Erlandson, M.E.2    Bezan, A.I.3
  • 10
    • 0345518030 scopus 로고    scopus 로고
    • Variant of dihydropteridine reductase deficiency without hyperphenylalaninemia: Effect of oral phen$nylalanine loading
    • Blau N, Thöny B, Renneberg A, et al. Variant of dihydropteridine reductase deficiency without hyperphenylalaninemia: effect of oral phen$nylalanine loading. J Inherit Metab Dis 1999;22:216-220.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 216-220
    • Blau, N.1    Thöny, B.2    Renneberg, A.3
  • 11
    • 0035099949 scopus 로고    scopus 로고
    • Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts
    • Bonafé L, Thöny B, Leimbacher W, Kierat L, Blau N. Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem 2001;47: 477-485.
    • (2001) Clin Chem , vol.47 , pp. 477-485
    • Bonafé, L.1    Thöny, B.2    Leimbacher, W.3    Kierat, L.4    Blau, N.5
  • 12
  • 13
    • 0032999405 scopus 로고    scopus 로고
    • Type 1 GM1 gangliosidosis with basal ganglia calcification: A case report
    • Chen CC, Chiu PC, Shieh KS. Type 1 GM1 gangliosidosis with basal ganglia calcification: a case report. Zhonghua Yi Xue Za Zhi (Taipei) 1999;62:40-45.
    • (1999) Zhonghua Yi Xue Za Zhi (Taipei) , vol.62 , pp. 40-45
    • Chen, C.C.1    Chiu, P.C.2    Shieh, K.S.3
  • 15
    • 0025562644 scopus 로고
    • Intracranial calcifications in dihydropteridine reductase deficiency
    • Coskun T, Besim A, Ozalp I, Erylimaz M, Intracranial calcifications in dihydropteridine reductase deficiency. Turk J Pediatr 1990;32:259-264.
    • (1990) Turk J Pediatr , vol.32 , pp. 259-264
    • Coskun, T.1    Besim, A.2    Ozalp, I.3    Erylimaz, M.4
  • 16
    • 0029062377 scopus 로고
    • Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency
    • Goldstein DS, Hahn SH, Holmes C, et al. Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency. J Neurochem 1995;64:2810-2813.
    • (1995) J Neurochem , vol.64 , pp. 2810-2813
    • Goldstein, D.S.1    Hahn, S.H.2    Holmes, C.3
  • 17
    • 0031761337 scopus 로고    scopus 로고
    • Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: Clinical, biochemical, and neuropathologic findings
    • Miladi N, Larnaout A, Dhondt JL, et al. Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: clinical, biochemical, and neuropathologic findings. J Child Neurol 1998;13:475-480.
    • (1998) J Child Neurol , vol.13 , pp. 475-480
    • Miladi, N.1    Larnaout, A.2    Dhondt, J.L.3
  • 18
    • 0025959724 scopus 로고
    • Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns
    • Lipson AH, Earl JW, Wilcken B, et al. Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns. J Inherit Metab Dis 1991;14:49-52.
    • (1991) J Inherit Metab Dis , vol.14 , pp. 49-52
    • Lipson, A.H.1    Earl, J.W.2    Wilcken, B.3
  • 19
    • 0026456626 scopus 로고
    • Atypical (mild) forms of dihydropteridine reductase deficiency-neurochemical evaluation and mu-tation detection
    • Blau N, Heizmann CW, Sperl W, et al. Atypical (mild) forms of dihydropteridine reductase deficiency-neurochemical evaluation and mu-tation detection. Pediatr Res 1992;32:726-730.
    • (1992) Pediatr Res , vol.32 , pp. 726-730
    • Blau, N.1    Heizmann, C.W.2    Sperl, W.3
  • 20
    • 0023149783 scopus 로고
    • Neurotransmitter therapy and diet in malignant phenylketonuria
    • Ponzone A, Guardamagna O, Ferraris S, et al. Neurotransmitter therapy and diet in malignant phenylketonuria. Eur J Pediatr 1987;146:93-94.
    • (1987) Eur J Pediatr , vol.146 , pp. 93-94
    • Ponzone, A.1    Guardamagna, O.2    Ferraris, S.3
  • 21
    • 0034176921 scopus 로고    scopus 로고
    • Tetrahydrobiopterin biosynthesis, regeneration, and functions
    • Thöny B, Auerbach G, Blau N. Tetrahydrobiopterin biosynthesis, regeneration, and functions. Biochem J 2000;347:1-26.
    • (2000) Biochem J , vol.347 , pp. 1-26
    • Thöny, B.1    Auerbach, G.2    Blau, N.3
  • 22
    • 0022909292 scopus 로고
    • Interferon-gamma enhances biosynthesis of pterins in peripheral blood mononuclear cells by induction of GTP-cyclohydrolase I activity
    • Schoedon G, Troppmair J, Adolf G, Huber C, Niederwieser A. Interferon-gamma enhances biosynthesis of pterins in peripheral blood mononuclear cells by induction of GTP-cyclohydrolase I activity. J Interferon Res 1986;6:697-703.
    • (1986) J Interferon Res , vol.6 , pp. 697-703
    • Schoedon, G.1    Troppmair, J.2    Adolf, G.3    Huber, C.4    Niederwieser, A.5
  • 23
    • 0037155809 scopus 로고    scopus 로고
    • Bacterial lipopolysaccharide down-regulates expression of GTP cyclohydrolase I feed-back regulatory protein
    • Werner ER, Bahrami S, Heller R, Werner-Fellmayer G. Bacterial lipopolysaccharide down-regulates expression of GTP cyclohydrolase I feed-back regulatory protein. J Biol Chem 2002;277:10129-10133.
    • (2002) J Biol Chem , vol.277 , pp. 10129-10133
    • Werner, E.R.1    Bahrami, S.2    Heller, R.3    Werner-Fellmayer, G.4
  • 24
    • 0041648263 scopus 로고    scopus 로고
    • The low tetrahydrobiopterin biosynthetic capacity of human monocytes is caused by exon skipping in 6-pyruvoyl tetrahydropterin synthase
    • Leitner KL, Meyer M, Leimbacher W, et al. The low tetrahydrobiopterin biosynthetic capacity of human monocytes is caused by exon skipping in 6-pyruvoyl tetrahydropterin synthase. Biochem J 2003;278:28303-28311.
    • (2003) Biochem J , vol.278 , pp. 28303-28311
    • Leitner, K.L.1    Meyer, M.2    Leimbacher, W.3
  • 25
    • 0023854165 scopus 로고
    • Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency
    • Hyland K, Smith I, Bottiglieri T, et al. Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency. Neurology 1988;38:459-462.
    • (1988) Neurology , vol.38 , pp. 459-462
    • Hyland, K.1    Smith, I.2    Bottiglieri, T.3
  • 26
    • 0026072264 scopus 로고
    • Some metabolic relationships between biopterin and folate: Implications for the "methyl trap hypothesis."
    • Kaufman S. Some metabolic relationships between biopterin and folate: implications for the "methyl trap hypothesis." Neurochem Res 1991;16: 1031-1036.
    • (1991) Neurochem Res , vol.16 , pp. 1031-1036
    • Kaufman, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.