-
1
-
-
0021336060
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
0000138089
-
Disorders of tetrahydrobiopterin and related biogenic amines
-
Scriver CR, Beaudet AL, Sly WS, et al., eds. New York: McGraw-Hill
-
Blau N, Thöny B, Cotton RGH, Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001;1725-1776.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease. 8th Ed.
, pp. 1725-1776
-
-
Blau, N.1
Thöny, B.2
Cotton, R.G.H.3
Hyland, K.4
-
13
-
-
0032999405
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|