-
1
-
-
29744448577
-
Diagnosis and management of tumors of the adrenal medulla
-
Ilias I., and Pacak K. Diagnosis and management of tumors of the adrenal medulla. Horm. Metab. Res. 37 (2005) 717-721
-
(2005)
Horm. Metab. Res.
, vol.37
, pp. 717-721
-
-
Ilias, I.1
Pacak, K.2
-
2
-
-
33947688279
-
Diagnostic and prognostic impact of urinary catecholamines in neuroblastoma patients
-
Strenger V., Kerbl R., Dornbusch H.J., et al. Diagnostic and prognostic impact of urinary catecholamines in neuroblastoma patients. Pediatr. Blood Cancer 48 (2007) 504-509
-
(2007)
Pediatr. Blood Cancer
, vol.48
, pp. 504-509
-
-
Strenger, V.1
Kerbl, R.2
Dornbusch, H.J.3
-
3
-
-
9044252959
-
Tyrosine hydroxylase. The initial step in norepinephrine biosynthesis
-
Nagatsu T., Levitt M., and Uenfriend S. Tyrosine hydroxylase. The initial step in norepinephrine biosynthesis. J. Biol. Chem. 239 (1964) 2910-2917
-
(1964)
J. Biol. Chem.
, vol.239
, pp. 2910-2917
-
-
Nagatsu, T.1
Levitt, M.2
Uenfriend, S.3
-
4
-
-
0027156904
-
Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population
-
Hyland K., Surtees R.A., Heales S.J., Bowron A., Howells D.W., and Smith I. Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population. Pediatr. Res. 34 (1993) 10-14
-
(1993)
Pediatr. Res.
, vol.34
, pp. 10-14
-
-
Hyland, K.1
Surtees, R.A.2
Heales, S.J.3
Bowron, A.4
Howells, D.W.5
Smith, I.6
-
5
-
-
0344435235
-
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
-
Wevers R.A., de Rijk-van Andel J.F., Bräutigam C., et al. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). J. Inher. Metab. Dis. 22 (1999) 364-373
-
(1999)
J. Inher. Metab. Dis.
, vol.22
, pp. 364-373
-
-
Wevers, R.A.1
de Rijk-van Andel, J.F.2
Bräutigam, C.3
-
6
-
-
0028816765
-
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
-
Lüdecke B., Dworniczak B., and Bartolomé K. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum. Genet. 95 (1995) 123-125
-
(1995)
Hum. Genet.
, vol.95
, pp. 123-125
-
-
Lüdecke, B.1
Dworniczak, B.2
Bartolomé, K.3
-
7
-
-
0029049876
-
Recessively inherited ldopa-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
-
Knappskog P.M., Flatmark T., Mallet J., Lüdecke B., and Bartholomé K. Recessively inherited ldopa-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum. Mol. Genet. 4 (1995) 1209-1212
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1209-1212
-
-
Knappskog, P.M.1
Flatmark, T.2
Mallet, J.3
Lüdecke, B.4
Bartholomé, K.5
-
8
-
-
0031721663
-
Biochemical hallmarks of tyrosine hydroxylase deficiency
-
Bräutigam C., Wevers R.A., Jansen R.J., et al. Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin. Chem. 44 (1998) 1897-1904
-
(1998)
Clin. Chem.
, vol.44
, pp. 1897-1904
-
-
Bräutigam, C.1
Wevers, R.A.2
Jansen, R.J.3
-
9
-
-
0035936609
-
Dopamine responsive dystonia simulating spactic paraplegia due to tyrosine hydroxylase (TH) gene mutations
-
Furukawa Y., Graf W.D., Wong H., Shimadzu M., and Kish S.J. Dopamine responsive dystonia simulating spactic paraplegia due to tyrosine hydroxylase (TH) gene mutations. Neurology 56 (2001) 260-263
-
(2001)
Neurology
, vol.56
, pp. 260-263
-
-
Furukawa, Y.1
Graf, W.D.2
Wong, H.3
Shimadzu, M.4
Kish, S.J.5
-
10
-
-
0031901965
-
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive l-dopa-responsive dystonia in the Dutch population
-
Van der Heuvel L.P., Luiten B., Smeitink J.A., et al. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive l-dopa-responsive dystonia in the Dutch population. Hum. Genet. 102 (1998) 644-646
-
(1998)
Hum. Genet.
, vol.102
, pp. 644-646
-
-
Van der Heuvel, L.P.1
Luiten, B.2
Smeitink, J.A.3
-
11
-
-
0030035985
-
Recessively inherited l-dopa responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
-
Lüdecke B., Knappskog P.M., Clayton P.T., et al. Recessively inherited l-dopa responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum. Mol. Genet. 5 (1996) 1023-1028
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1023-1028
-
-
Lüdecke, B.1
Knappskog, P.M.2
Clayton, P.T.3
-
12
-
-
34249823680
-
Inherited disorders affecting dopamine and serotonin: critical neurotransmitters derived from aromatic amino acids
-
Hyland K. Inherited disorders affecting dopamine and serotonin: critical neurotransmitters derived from aromatic amino acids. J. Nutr. 37 (2007) 1568S-1572S
-
(2007)
J. Nutr.
, vol.37
-
-
Hyland, K.1
-
13
-
-
17144432891
-
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
-
Hoffman G.F., Assmann B., Bräutigam C., et al. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann. Neurol. 54 (2003) S56-S65
-
(2003)
Ann. Neurol.
, vol.54
-
-
Hoffman, G.F.1
Assmann, B.2
Bräutigam, C.3
-
14
-
-
37749050846
-
Tyrosine hydroxylase deficiency presenting with a biphasic clinical curse
-
Giovanello T., Leuzzi V., Carducci C., et al. Tyrosine hydroxylase deficiency presenting with a biphasic clinical curse. Neuropediatrics 38 (2007) 213-215
-
(2007)
Neuropediatrics
, vol.38
, pp. 213-215
-
-
Giovanello, T.1
Leuzzi, V.2
Carducci, C.3
-
15
-
-
23844546574
-
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency
-
Møller L.B., Romstad A., Paulsen M., et al. Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. Prenat. Diagn. 25 (2005) 671-675
-
(2005)
Prenat. Diagn.
, vol.25
, pp. 671-675
-
-
Møller, L.B.1
Romstad, A.2
Paulsen, M.3
-
16
-
-
0021891891
-
Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin
-
Nichol C.A., Smith G.K., and Duch D.S. Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin. Annu. Rev. Biochem. 54 (1985) 729-764
-
(1985)
Annu. Rev. Biochem.
, vol.54
, pp. 729-764
-
-
Nichol, C.A.1
Smith, G.K.2
Duch, D.S.3
-
17
-
-
0034176921
-
Tetrahydrobiopterin biosynthesis, regeneration and functions
-
Thöny B., Auerbach G., and Blau N. Tetrahydrobiopterin biosynthesis, regeneration and functions. Biochem. J. 347 (2000) 1-16
-
(2000)
Biochem. J.
, vol.347
, pp. 1-16
-
-
Thöny, B.1
Auerbach, G.2
Blau, N.3
-
18
-
-
0000138089
-
Disorders of tetrahydrobioterin and related biogenic amines
-
Scriver C., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Blau N., Thöny B., Cotton R., and Hyland K. Disorders of tetrahydrobioterin and related biogenic amines. In: Scriver C., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 1725-1776
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1725-1776
-
-
Blau, N.1
Thöny, B.2
Cotton, R.3
Hyland, K.4
-
19
-
-
0034928621
-
Mutations in the sepiapterin reductase cause a novel tetrahydropterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
-
Bonafe L., Thöny B., Penzien J.M., Czarnecki B., and Blau N. Mutations in the sepiapterin reductase cause a novel tetrahydropterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am. J. Hum. Genet. 69 (2001) 269-277
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 269-277
-
-
Bonafe, L.1
Thöny, B.2
Penzien, J.M.3
Czarnecki, B.4
Blau, N.5
-
20
-
-
0042868558
-
Autosomal dominant guanosine triphosphate cyclohydrolase 1 deficiency (Segawa disease)
-
Segawa M., Nomura Y., and Nichiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase 1 deficiency (Segawa disease). Ann. Neurol. 54 (2003) S32-S45
-
(2003)
Ann. Neurol.
, vol.54
-
-
Segawa, M.1
Nomura, Y.2
Nichiyama, N.3
-
21
-
-
0029079994
-
Dopa-responsive dystonia
-
Nygaard T.G. Dopa-responsive dystonia. Curr. Opin. Neurol. 8 (1995) 310-313
-
(1995)
Curr. Opin. Neurol.
, vol.8
, pp. 310-313
-
-
Nygaard, T.G.1
-
23
-
-
0036212214
-
The genetics of primary dystonias and related disorders
-
Nemeth A.H. The genetics of primary dystonias and related disorders. Brain 125 (2002) 695-721
-
(2002)
Brain
, vol.125
, pp. 695-721
-
-
Nemeth, A.H.1
-
24
-
-
26044449033
-
Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder
-
Neville B.G., Parascandalo R., Farrugia R., and Felice A. Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. Brain 128 (2005) 2291-2296
-
(2005)
Brain
, vol.128
, pp. 2291-2296
-
-
Neville, B.G.1
Parascandalo, R.2
Farrugia, R.3
Felice, A.4
-
25
-
-
0025896495
-
Human carbonyl and aldosa reductases: new catalytic functions in tetrahydropterin biosynthesis
-
Park Y.S., Heizmann C.W., Wermuth B., et al. Human carbonyl and aldosa reductases: new catalytic functions in tetrahydropterin biosynthesis. Biochem. Biophys. Res. Commun. 175 (1991) 738-744
-
(1991)
Biochem. Biophys. Res. Commun.
, vol.175
, pp. 738-744
-
-
Park, Y.S.1
Heizmann, C.W.2
Wermuth, B.3
-
26
-
-
0019495032
-
Purification and properties of an NADPH-dependent carbonyl reductase from human brain: relationship to prostaglandin 9-ketoreductase and xenobiotic ketone reductase
-
Wermuth B. Purification and properties of an NADPH-dependent carbonyl reductase from human brain: relationship to prostaglandin 9-ketoreductase and xenobiotic ketone reductase. J. Biol. Chem. 256 (1981) 1206
-
(1981)
J. Biol. Chem.
, vol.256
, pp. 1206
-
-
Wermuth, B.1
-
27
-
-
29344432053
-
Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis
-
Abdenur J.E., Abeling N., Specola N., et al. Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol. Genet. Metab. 87 (2006) 48-53
-
(2006)
Mol. Genet. Metab.
, vol.87
, pp. 48-53
-
-
Abdenur, J.E.1
Abeling, N.2
Specola, N.3
-
28
-
-
1842580680
-
Aromatic l-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis
-
Pons R., Ford B., Chiriboga C.A., et al. Aromatic l-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology 62 (2004) 1058-1065
-
(2004)
Neurology
, vol.62
, pp. 1058-1065
-
-
Pons, R.1
Ford, B.2
Chiriboga, C.A.3
-
29
-
-
0042868556
-
Aromatic l-amino acid decarboxylase deficiency: overview of clinical features and outcomes
-
Swoboda K.J., Saul J.P., McKenna C.E., Speller N.B., and Hyland K. Aromatic l-amino acid decarboxylase deficiency: overview of clinical features and outcomes. Ann. Neurol. 54 (2003) S49-S55
-
(2003)
Ann. Neurol.
, vol.54
-
-
Swoboda, K.J.1
Saul, J.P.2
McKenna, C.E.3
Speller, N.B.4
Hyland, K.5
-
30
-
-
0027071768
-
Aromatic l-aminoacid decarboxylase deficiency: diagnosis methodology
-
Hyland K., and Clayton P. Aromatic l-aminoacid decarboxylase deficiency: diagnosis methodology. Clin. Chem. 38 (1992) 2405-2410
-
(1992)
Clin. Chem.
, vol.38
, pp. 2405-2410
-
-
Hyland, K.1
Clayton, P.2
-
31
-
-
0032934972
-
Update on interconversions of vitamin B6 with its coenzyme
-
McCormick D.B., and Chen H. Update on interconversions of vitamin B6 with its coenzyme. J. Nutr. 129 (1999) 325-327
-
(1999)
J. Nutr.
, vol.129
, pp. 325-327
-
-
McCormick, D.B.1
Chen, H.2
-
32
-
-
33644821320
-
Mutations in antiquitin in individuals with pyridoxine-dependent seizures
-
Mills P.B., Struys E., Jakobs C., Plecko B., Baxter P., and Baumgartner M. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat. Med. 12 (2006) 307-309
-
(2006)
Nat. Med.
, vol.12
, pp. 307-309
-
-
Mills, P.B.1
Struys, E.2
Jakobs, C.3
Plecko, B.4
Baxter, P.5
Baumgartner, M.6
-
33
-
-
43249127475
-
Pyridoxal 5'-phosphate values in cerebrospinal fluid: Reference values and diagnosis of PNPO deficiency in paediatric patients
-
Ormazábal A., Oppenheim M., Serrano M., et al. Pyridoxal 5'-phosphate values in cerebrospinal fluid: Reference values and diagnosis of PNPO deficiency in paediatric patients. Mol Genet Metab 94 (2008) 173-177
-
(2008)
Mol Genet Metab
, vol.94
, pp. 173-177
-
-
Ormazábal, A.1
Oppenheim, M.2
Serrano, M.3
-
34
-
-
33845964751
-
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene
-
Plecko B., Paul K., Paschke E., et al. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum. Mutat. 28 (2007) 19-26
-
(2007)
Hum. Mutat.
, vol.28
, pp. 19-26
-
-
Plecko, B.1
Paul, K.2
Paschke, E.3
-
35
-
-
20244367772
-
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
-
Mills P.B., Surtees R.A., Champion M.P., et al. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase. Hum. Mol. Genet. 14 (2005) 1077-1086
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 1077-1086
-
-
Mills, P.B.1
Surtees, R.A.2
Champion, M.P.3
-
37
-
-
0022651391
-
Isolated failure of autonomic noradrenergic neurotransmission. Evidence for impaired β-hydroxylation of dopamine
-
Robertson D., Goldberg M.R., Hollister A.S., et al. Isolated failure of autonomic noradrenergic neurotransmission. Evidence for impaired β-hydroxylation of dopamine. New Engl. J. Med. 314 (1986) 1494-1497
-
(1986)
New Engl. J. Med.
, vol.314
, pp. 1494-1497
-
-
Robertson, D.1
Goldberg, M.R.2
Hollister, A.S.3
-
38
-
-
0041871185
-
Disorders of neurotransmitter metabolism
-
Blau N., Duran M., Blaskovics M.E., and Gibson K.M. (Eds), Springer, Heidelberg
-
Hyland K. Disorders of neurotransmitter metabolism. In: Blau N., Duran M., Blaskovics M.E., and Gibson K.M. (Eds). Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases (2002), Springer, Heidelberg 107-122
-
(2002)
Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases
, pp. 107-122
-
-
Hyland, K.1
-
39
-
-
0025772671
-
Dopamine β-hydroxylase deficiency. A genetic disorder of cardiovascular regulation
-
Robertson D., Haile V., and Perry S.E. Dopamine β-hydroxylase deficiency. A genetic disorder of cardiovascular regulation. Hypertension 18 (1991) 1-8
-
(1991)
Hypertension
, vol.18
, pp. 1-8
-
-
Robertson, D.1
Haile, V.2
Perry, S.E.3
-
40
-
-
0036498724
-
Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency
-
Kim C.H., Zabetian C.P., Cubells J.F., et al. Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. Am. J. Med. Genet. 108 (2002) 140-147
-
(2002)
Am. J. Med. Genet.
, vol.108
, pp. 140-147
-
-
Kim, C.H.1
Zabetian, C.P.2
Cubells, J.F.3
-
41
-
-
0027500119
-
Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease
-
Kaler S.G., Goldstein D.S., Holmes C., Salerno J.A., and Gahl W.A. Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease. Ann. Neurol. 33 (1993) 171-175
-
(1993)
Ann. Neurol.
, vol.33
, pp. 171-175
-
-
Kaler, S.G.1
Goldstein, D.S.2
Holmes, C.3
Salerno, J.A.4
Gahl, W.A.5
-
42
-
-
0031980440
-
Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency
-
Kaler S.G. Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency. Am. J. Clin. Nutr. 67 (1998) 1929-1934
-
(1998)
Am. J. Clin. Nutr.
, vol.67
, pp. 1929-1934
-
-
Kaler, S.G.1
-
44
-
-
0027442475
-
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A
-
Brunner H.G., Nelen M., Breakefield X.O., Ropers H.H., and van Oost B.A. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262 (1993) 578-580
-
(1993)
Science
, vol.262
, pp. 578-580
-
-
Brunner, H.G.1
Nelen, M.2
Breakefield, X.O.3
Ropers, H.H.4
van Oost, B.A.5
-
45
-
-
0034084055
-
Different allele distribution of a regulatory MAOA gene promoter polymorphism in antisocial and anxious-depressive alcoholics
-
Schmidt L.G., Sander T., Kuhn S., et al. Different allele distribution of a regulatory MAOA gene promoter polymorphism in antisocial and anxious-depressive alcoholics. J. Neural. Transm. 107 (2000) 681-689
-
(2000)
J. Neural. Transm.
, vol.107
, pp. 681-689
-
-
Schmidt, L.G.1
Sander, T.2
Kuhn, S.3
-
46
-
-
11244347693
-
Relationship of MAO-A promoter (u-VNTR) and COMT (V158M) gene polymorphisms to CSF monoamine metabolites levels in a psychiatric sample of caucasians: A preliminary report
-
Zalsman G., Huang Y.Y., Harkavy-Friedman J.M., Oquendo M.A., Ellis S.P., and Mann J.J. Relationship of MAO-A promoter (u-VNTR) and COMT (V158M) gene polymorphisms to CSF monoamine metabolites levels in a psychiatric sample of caucasians: A preliminary report. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 132 (2005) 100-103
-
(2005)
Am. J. Med. Genet. B. Neuropsychiatr. Genet.
, vol.132
, pp. 100-103
-
-
Zalsman, G.1
Huang, Y.Y.2
Harkavy-Friedman, J.M.3
Oquendo, M.A.4
Ellis, S.P.5
Mann, J.J.6
-
47
-
-
0342424722
-
A promoter polymorphism in the monoamine oxidase: A gene and its relationships to monoamine metabolite concentrations in CSF of healthy volunteers
-
Jönsson E.G., Norton N., Gustavsson J.P., Oreland L., Owen M.J., and Sedvall G.C. A promoter polymorphism in the monoamine oxidase: A gene and its relationships to monoamine metabolite concentrations in CSF of healthy volunteers. J. Psychiatr. Res. 34 (2000) 239-244
-
(2000)
J. Psychiatr. Res.
, vol.34
, pp. 239-244
-
-
Jönsson, E.G.1
Norton, N.2
Gustavsson, J.P.3
Oreland, L.4
Owen, M.J.5
Sedvall, G.C.6
-
48
-
-
33748040737
-
A functional polymorphism in the MAOA gene promoter (MAOA-LPR) predicts central dopamine function and body mass index
-
Ducci F., Newman T.K., Funt S., Brown G.L., Virkkunen M., and Goldman D. A functional polymorphism in the MAOA gene promoter (MAOA-LPR) predicts central dopamine function and body mass index. Mol. Psychiatry. 11 (2006) 858-866
-
(2006)
Mol. Psychiatry.
, vol.11
, pp. 858-866
-
-
Ducci, F.1
Newman, T.K.2
Funt, S.3
Brown, G.L.4
Virkkunen, M.5
Goldman, D.6
-
49
-
-
33845706859
-
Impact of catechol-O-methyltransferase on prefrontal brain functioning in schizophrenia spectrum disorders
-
Ehlis A.C., Reif A., Herrmann M.J., Lesch K.P., and Fallgatter A.J. Impact of catechol-O-methyltransferase on prefrontal brain functioning in schizophrenia spectrum disorders. Neuropsychopharmacology 32 (2007) 162-170
-
(2007)
Neuropsychopharmacology
, vol.32
, pp. 162-170
-
-
Ehlis, A.C.1
Reif, A.2
Herrmann, M.J.3
Lesch, K.P.4
Fallgatter, A.J.5
-
50
-
-
14044255978
-
Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans
-
Lee S.G., Joo Y., Kim B., et al. Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans. Hum. Genet. 116 (2005) 319-328
-
(2005)
Hum. Genet.
, vol.116
, pp. 319-328
-
-
Lee, S.G.1
Joo, Y.2
Kim, B.3
-
51
-
-
0035859844
-
Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity COMT polymorphism
-
Graf W.D., Unis A.S., Yates C.M., et al. Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity COMT polymorphism. Neurology 57 (2001) 410-416
-
(2001)
Neurology
, vol.57
, pp. 410-416
-
-
Graf, W.D.1
Unis, A.S.2
Yates, C.M.3
-
52
-
-
42049110960
-
Disrupted dopaminergic neurotransmission in 22q11 deletion syndrome
-
Boot E., Booij J., Zinkstok J., et al. Disrupted dopaminergic neurotransmission in 22q11 deletion syndrome. Neuropsychopharmacology 33 (2008) 1252-1258
-
(2008)
Neuropsychopharmacology
, vol.33
, pp. 1252-1258
-
-
Boot, E.1
Booij, J.2
Zinkstok, J.3
-
53
-
-
34648846052
-
Secondary abnormalities of neurotransmitters in infants with neurological disorders
-
García-Cazorla A., Serrano M., Pérez-Dueñas B., et al. Secondary abnormalities of neurotransmitters in infants with neurological disorders. Dev. Med. Child Neurol. 49 (2007) 740-744
-
(2007)
Dev. Med. Child Neurol.
, vol.49
, pp. 740-744
-
-
García-Cazorla, A.1
Serrano, M.2
Pérez-Dueñas, B.3
-
54
-
-
0037214695
-
Decreased homovanillic acid concentrations in cerebrospinal fluid in children without a known defect in dopamine metabolism
-
Van der Heyden J.C., Rotteveel J.J., and Wevers R.A. Decreased homovanillic acid concentrations in cerebrospinal fluid in children without a known defect in dopamine metabolism. Eur. J. Ped. Neurol. 07 (2003) 31-37
-
(2003)
Eur. J. Ped. Neurol.
, vol.7
, pp. 31-37
-
-
Van der Heyden, J.C.1
Rotteveel, J.J.2
Wevers, R.A.3
-
55
-
-
34547601259
-
Perinatal asphyxia may cause reduction in CSF dopamine metabolite concentrations
-
Serrano M., Ormazábal A., Pérez-Dueñas B., et al. Perinatal asphyxia may cause reduction in CSF dopamine metabolite concentrations. Neurology 69 (2007) 311-313
-
(2007)
Neurology
, vol.69
, pp. 311-313
-
-
Serrano, M.1
Ormazábal, A.2
Pérez-Dueñas, B.3
-
56
-
-
0142072084
-
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria)
-
Gibson K.M., Gupta M., Pearl P.L., et al. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol. Psychiatry. 54 (2003) 763-768
-
(2003)
Biol. Psychiatry.
, vol.54
, pp. 763-768
-
-
Gibson, K.M.1
Gupta, M.2
Pearl, P.L.3
-
57
-
-
0034795729
-
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase
-
Hogema B.M., Gupta M., Senephansiri H., et al. Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat. Genet. 29 (2001) 212-216
-
(2001)
Nat. Genet.
, vol.29
, pp. 212-216
-
-
Hogema, B.M.1
Gupta, M.2
Senephansiri, H.3
-
58
-
-
0041365682
-
Succinic semialdehyde dehydrogenase deficiency in children and adults
-
Pearl P.L., Novotny E.J., Acosta M.T., Jakobs C., and Gibson K.M. Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann. Neurol. 54 (2003) S73-80
-
(2003)
Ann. Neurol.
, vol.54
-
-
Pearl, P.L.1
Novotny, E.J.2
Acosta, M.T.3
Jakobs, C.4
Gibson, K.M.5
-
59
-
-
0034120708
-
Measurements of neurotransmitters metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment
-
Burlina A.B., Bonafe L., Ferrari V., Suppiej A., Zacchello F., and Burlina A.P. Measurements of neurotransmitters metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment. J. Inherit. Metab. Dis. 23 (2000) 313-316
-
(2000)
J. Inherit. Metab. Dis.
, vol.23
, pp. 313-316
-
-
Burlina, A.B.1
Bonafe, L.2
Ferrari, V.3
Suppiej, A.4
Zacchello, F.5
Burlina, A.P.6
-
60
-
-
7244255925
-
l-Dopa responsive Parkinson's syndrome in association with phenylketonuria: In vivo dopamine transporter and D2 receptor findings
-
Evans A.H., Costa D.C., Gacinovic S., et al. l-Dopa responsive Parkinson's syndrome in association with phenylketonuria: In vivo dopamine transporter and D2 receptor findings. Mov. Dis. 19 (2004) 1232-1236
-
(2004)
Mov. Dis.
, vol.19
, pp. 1232-1236
-
-
Evans, A.H.1
Costa, D.C.2
Gacinovic, S.3
-
61
-
-
0024273038
-
Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine
-
Lykkelund C., Nielsen J.B., Lou H.C., et al. Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine. Eur. J. Pediatr. 148 (1988) 238-245
-
(1988)
Eur. J. Pediatr.
, vol.148
, pp. 238-245
-
-
Lykkelund, C.1
Nielsen, J.B.2
Lou, H.C.3
-
62
-
-
0021797643
-
Decreased vigilance and neurotransmitter synthesis after discontinuation of dietary treatment for phenylketonuria in adolescents
-
Lou H.C., Güttler F., Lykkelund C., Bruhn P., and Niederwieser A. Decreased vigilance and neurotransmitter synthesis after discontinuation of dietary treatment for phenylketonuria in adolescents. Eur. J. Pediatr. 144 (1985) 17-20
-
(1985)
Eur. J. Pediatr.
, vol.144
, pp. 17-20
-
-
Lou, H.C.1
Güttler, F.2
Lykkelund, C.3
Bruhn, P.4
Niederwieser, A.5
-
63
-
-
0023225583
-
Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria
-
Lou H.C., Lykkelund C., Gerdes A.M., Udesen H., and Bruhn P. Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria. Acta Paediatr. Scand. 76 (1987) 560-565
-
(1987)
Acta Paediatr. Scand.
, vol.76
, pp. 560-565
-
-
Lou, H.C.1
Lykkelund, C.2
Gerdes, A.M.3
Udesen, H.4
Bruhn, P.5
-
64
-
-
0023021880
-
Dietary problems of phenylketonuria: effect on CNS transmitters and their possible role in behaviour and neuropsychological function
-
Güttler F., and Lou H. Dietary problems of phenylketonuria: effect on CNS transmitters and their possible role in behaviour and neuropsychological function. J. Inherit. Metab. Dis. 9 (1986) 169-177
-
(1986)
J. Inherit. Metab. Dis.
, vol.9
, pp. 169-177
-
-
Güttler, F.1
Lou, H.2
-
65
-
-
46149085849
-
Mitochondrial diseases mimicking neurotransmitter defects
-
García-Cazorla A., Duarte S., Serrano M., et al. Mitochondrial diseases mimicking neurotransmitter defects. Mitochondrion 8 (2008) 273-278
-
(2008)
Mitochondrion
, vol.8
, pp. 273-278
-
-
García-Cazorla, A.1
Duarte, S.2
Serrano, M.3
-
66
-
-
0018378692
-
Reye syndrome: monoamine metabolites in ventricular fluid
-
Shaywitz B.A., Venes J., Cohen D.J., and Bowers M.B. Reye syndrome: monoamine metabolites in ventricular fluid. Neurology 29 (1979) 467-472
-
(1979)
Neurology
, vol.29
, pp. 467-472
-
-
Shaywitz, B.A.1
Venes, J.2
Cohen, D.J.3
Bowers, M.B.4
-
67
-
-
52649083272
-
l-dopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks
-
Serrano M., Pérez-Dueñas B., Ormazábal A., et al. l-dopa therapy in a Lesch-Nyhan disease patient: pathological, biochemical, neuroimaging, and therapeutic remarks. Mov. Dis. 23 (2008) 1297-1300
-
(2008)
Mov. Dis.
, vol.23
, pp. 1297-1300
-
-
Serrano, M.1
Pérez-Dueñas, B.2
Ormazábal, A.3
-
68
-
-
0018740104
-
Effects of l-Nyhan syndrome
-
Castells S., Chakrabarti C., Winsberg B.G., Hurwic M., Perel J.M., and Nyhan W.L. Effects of l-Nyhan syndrome. J. Autism. Dev. Disord. 9 (1979) 95-103
-
(1979)
J. Autism. Dev. Disord.
, vol.9
, pp. 95-103
-
-
Castells, S.1
Chakrabarti, C.2
Winsberg, B.G.3
Hurwic, M.4
Perel, J.M.5
Nyhan, W.L.6
-
70
-
-
0023888809
-
Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters
-
Jankovich J., Caskey T.C., Stout J.T., and Butler I.J. Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters. Ann. Neurol. 23 (1988) 466-469
-
(1988)
Ann. Neurol.
, vol.23
, pp. 466-469
-
-
Jankovich, J.1
Caskey, T.C.2
Stout, J.T.3
Butler, I.J.4
-
71
-
-
0028232129
-
Association of cerebrospinal fluid deficiency of 5-methyltetrahydrofolate, but not S-adenosylmethionine with reduced concentrations of the acid metabolites of 5-hydroxytryptamine and dopamine
-
Surtees R., Heales S., and Bowron A. Association of cerebrospinal fluid deficiency of 5-methyltetrahydrofolate, but not S-adenosylmethionine with reduced concentrations of the acid metabolites of 5-hydroxytryptamine and dopamine. Clin. Sci. 86 (1994) 697-702
-
(1994)
Clin. Sci.
, vol.86
, pp. 697-702
-
-
Surtees, R.1
Heales, S.2
Bowron, A.3
-
72
-
-
43249089069
-
Comparative evaluation of 5-HIAA (5-hydroxy indoleacetic acid) and HVA (homovanillic acid) in infantile hydrocephalus
-
Gopal S.C., Pandey A., Das I., et al. Comparative evaluation of 5-HIAA (5-hydroxy indoleacetic acid) and HVA (homovanillic acid) in infantile hydrocephalus. Childs. Nerv. Syst. 24 (2008) 713-716
-
(2008)
Childs. Nerv. Syst.
, vol.24
, pp. 713-716
-
-
Gopal, S.C.1
Pandey, A.2
Das, I.3
-
73
-
-
0031922956
-
Monoaminergic effects of high-dose corticotropin in corticotropin-responsive pediatric opsoclonus-myoclonus
-
Pranzatelli M.R., Huang Y.Y., Tate E., et al. Monoaminergic effects of high-dose corticotropin in corticotropin-responsive pediatric opsoclonus-myoclonus. Mov. Dis. 13 (1998) 522-528
-
(1998)
Mov. Dis.
, vol.13
, pp. 522-528
-
-
Pranzatelli, M.R.1
Huang, Y.Y.2
Tate, E.3
-
74
-
-
0028816353
-
Cerebrospinal fluid 5-hydroxyindoleacetic acid and homovanillic acid in the pediatric opsoclonus-myoclonus syndrome
-
Pranzatelli M.R., Huang Y., Tate E., et al. Cerebrospinal fluid 5-hydroxyindoleacetic acid and homovanillic acid in the pediatric opsoclonus-myoclonus syndrome. Ann. Neurol. 37 (1995) 189-197
-
(1995)
Ann. Neurol.
, vol.37
, pp. 189-197
-
-
Pranzatelli, M.R.1
Huang, Y.2
Tate, E.3
-
75
-
-
0016440599
-
Reduced cerebrospinal fluid 5-hydroxyindoleacetic acid and homovanillic acid in children with epilepsy
-
Shaywitz B.A., Cohen D.J., and Bowers M.B. Reduced cerebrospinal fluid 5-hydroxyindoleacetic acid and homovanillic acid in children with epilepsy. Neurology 25 (1975) 72-79
-
(1975)
Neurology
, vol.25
, pp. 72-79
-
-
Shaywitz, B.A.1
Cohen, D.J.2
Bowers, M.B.3
-
76
-
-
0026590876
-
Cerebrospinal fluid and serum levels of dopa, catechols, and monoamine metabolites in patients with epilepsy
-
Devinsky O., Emoto S., Goldstein D.S., et al. Cerebrospinal fluid and serum levels of dopa, catechols, and monoamine metabolites in patients with epilepsy. Epilepsia 33 (1992) 263-270
-
(1992)
Epilepsia
, vol.33
, pp. 263-270
-
-
Devinsky, O.1
Emoto, S.2
Goldstein, D.S.3
-
77
-
-
38749150966
-
Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies
-
Duarte S., Sanmarti F., Gonzalez V., et al. Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies. Brain Dev. 30 (2008) 106-111
-
(2008)
Brain Dev.
, vol.30
, pp. 106-111
-
-
Duarte, S.1
Sanmarti, F.2
Gonzalez, V.3
-
78
-
-
0027056127
-
The concentrations of GABA, 5-HIAA and HVA in the cerebrospinal fluid of children with infantile spasms and the effects of ACTH treatment
-
Airaksinen E., Tuomisto L., and Riikonen R. The concentrations of GABA, 5-HIAA and HVA in the cerebrospinal fluid of children with infantile spasms and the effects of ACTH treatment. Brain Dev. 14 (1992) 386-390
-
(1992)
Brain Dev.
, vol.14
, pp. 386-390
-
-
Airaksinen, E.1
Tuomisto, L.2
Riikonen, R.3
-
79
-
-
0021338146
-
Cerebrospinal fluid monoamine metabolites in patients with infantile spasms
-
Silverstein F., and Johnston M.V. Cerebrospinal fluid monoamine metabolites in patients with infantile spasms. Neurology 34 (1984) 102-105
-
(1984)
Neurology
, vol.34
, pp. 102-105
-
-
Silverstein, F.1
Johnston, M.V.2
-
80
-
-
0018839284
-
Elevated homovanillic acid in cerebrospinal fluid of children with infantile spasms
-
Ito M., Okuno T., Mikawa H., and Osumi Y. Elevated homovanillic acid in cerebrospinal fluid of children with infantile spasms. Epilepsia 21 (1980) 387-392
-
(1980)
Epilepsia
, vol.21
, pp. 387-392
-
-
Ito, M.1
Okuno, T.2
Mikawa, H.3
Osumi, Y.4
-
82
-
-
0025234483
-
5-Hydroxyindoleacetic acid and homovanillic acid in cerebrospinal fluid of children with febrile convulsions
-
Giroud M., Dumas R., Dauvergne M., et al. 5-Hydroxyindoleacetic acid and homovanillic acid in cerebrospinal fluid of children with febrile convulsions. Epilepsia 31 (1990) 178-181
-
(1990)
Epilepsia
, vol.31
, pp. 178-181
-
-
Giroud, M.1
Dumas, R.2
Dauvergne, M.3
-
83
-
-
0019425168
-
Homovanillic acid and 5-hydroxyindoleacetic acid in lumbar cerebrospinal fluid in children with afebrile and febrile convulsions
-
Habel A., Yates C.M., McQueen J.K., Blackwood D., and Elton R.A. Homovanillic acid and 5-hydroxyindoleacetic acid in lumbar cerebrospinal fluid in children with afebrile and febrile convulsions. Neurology 31 (1981) 488-491
-
(1981)
Neurology
, vol.31
, pp. 488-491
-
-
Habel, A.1
Yates, C.M.2
McQueen, J.K.3
Blackwood, D.4
Elton, R.A.5
-
84
-
-
33845458902
-
A study of CSF catecholamine and its metabolites in acute and convalescent period of encephalitis
-
Kalita J., Kumar S., Vijaykumar K., Palit G., and Misra U.K. A study of CSF catecholamine and its metabolites in acute and convalescent period of encephalitis. J. Neurol. Sci. 252 (2007) 62-66
-
(2007)
J. Neurol. Sci.
, vol.252
, pp. 62-66
-
-
Kalita, J.1
Kumar, S.2
Vijaykumar, K.3
Palit, G.4
Misra, U.K.5
-
85
-
-
27844584368
-
Cerebrospinal fluid cathecolamine levels in Japanese encephalitis patients with movement disorders
-
Misra U.K., Kalita J., Pandey S., Khanna V.K., and Nagesh Babu G. Cerebrospinal fluid cathecolamine levels in Japanese encephalitis patients with movement disorders. Neurochem. Res. 30 (2005) 1075-1078
-
(2005)
Neurochem. Res.
, vol.30
, pp. 1075-1078
-
-
Misra, U.K.1
Kalita, J.2
Pandey, S.3
Khanna, V.K.4
Nagesh Babu, G.5
-
86
-
-
0027217328
-
Cerebrospinal fluid levels of homovanillic acid and 5-hydroxyindoleacetic acid in autism
-
Narayan M., Srinath S., Anderson G.M., and Meundi D.B. Cerebrospinal fluid levels of homovanillic acid and 5-hydroxyindoleacetic acid in autism. Biol. Psychiatry. 33 (1993) 630-635
-
(1993)
Biol. Psychiatry.
, vol.33
, pp. 630-635
-
-
Narayan, M.1
Srinath, S.2
Anderson, G.M.3
Meundi, D.B.4
-
87
-
-
0017664687
-
Dopamine and serotonin metabolism in neuropsychiatrically disturbed children. CSF homovanillic acid and 5-hydroxyindoleacetic acid
-
Cohen D.J., Caparulo B.K., Shaywitz B.A., and Bowers Jr. M.B. Dopamine and serotonin metabolism in neuropsychiatrically disturbed children. CSF homovanillic acid and 5-hydroxyindoleacetic acid. Arch. Gen. Psychiatry. 34 (1977) 545-550
-
(1977)
Arch. Gen. Psychiatry.
, vol.34
, pp. 545-550
-
-
Cohen, D.J.1
Caparulo, B.K.2
Shaywitz, B.A.3
Bowers Jr., M.B.4
-
88
-
-
0023190318
-
CSF monoamines in autistic syndromes and other pervasive developmental disorders of early childhood
-
Gillberg C., and Svennerholm L. CSF monoamines in autistic syndromes and other pervasive developmental disorders of early childhood. Br. J. Psychiatry. 151 (1987) 89-94
-
(1987)
Br. J. Psychiatry.
, vol.151
, pp. 89-94
-
-
Gillberg, C.1
Svennerholm, L.2
-
89
-
-
0028282774
-
Cerebrospinal fluid monoamine metabolites in boys with attention-deficit hyperactivity disorder
-
Castellanos F.X., Elia J., Kruesi M.J., et al. Cerebrospinal fluid monoamine metabolites in boys with attention-deficit hyperactivity disorder. Psychiatry. Res. 52 (1994) 305-316
-
(1994)
Psychiatry. Res.
, vol.52
, pp. 305-316
-
-
Castellanos, F.X.1
Elia, J.2
Kruesi, M.J.3
-
90
-
-
84970060564
-
Cerebrospinal fluid biogenic amines in obsessive compulsive disorder, Tourette's syndrome, and healthy controls
-
Leckman J.F., Goodman W.K., Anderson G.M., et al. Cerebrospinal fluid biogenic amines in obsessive compulsive disorder, Tourette's syndrome, and healthy controls. Neuropsychopharmacology 12 (1995) 73-86
-
(1995)
Neuropsychopharmacology
, vol.12
, pp. 73-86
-
-
Leckman, J.F.1
Goodman, W.K.2
Anderson, G.M.3
-
91
-
-
0018226655
-
Chronic, multiple tics of Gilles de la Tourette's disease. CSF acid monoamine metabolites after probenecid administration
-
Cohen D.J., Shaywitz B.A., Caparulo B., Young J.G., and Bowers Jr. M.B. Chronic, multiple tics of Gilles de la Tourette's disease. CSF acid monoamine metabolites after probenecid administration. Arch. Gen. Psychiatry. 35 (1978) 245-250
-
(1978)
Arch. Gen. Psychiatry.
, vol.35
, pp. 245-250
-
-
Cohen, D.J.1
Shaywitz, B.A.2
Caparulo, B.3
Young, J.G.4
Bowers Jr., M.B.5
-
92
-
-
0031036165
-
Cerebrospinal fluid monoamine metabolites in childhood-onset schizophrenia
-
Jacobsen L.K., Frazier J.A., Malhotra A.K., et al. Cerebrospinal fluid monoamine metabolites in childhood-onset schizophrenia. Am. J. Psychiatry. 154 (1997) 69-74
-
(1997)
Am. J. Psychiatry.
, vol.154
, pp. 69-74
-
-
Jacobsen, L.K.1
Frazier, J.A.2
Malhotra, A.K.3
-
93
-
-
0029074912
-
Monoamine neurotransmitters and metabolites in the cerebrospinal fluid following perinatal asphyxia
-
Blennow M., Zeman J., Dahlin I., and Lagercrantz H. Monoamine neurotransmitters and metabolites in the cerebrospinal fluid following perinatal asphyxia. Biol. Neonate. 67 (1995) 407-413
-
(1995)
Biol. Neonate.
, vol.67
, pp. 407-413
-
-
Blennow, M.1
Zeman, J.2
Dahlin, I.3
Lagercrantz, H.4
-
94
-
-
84995062909
-
Cerebrospinal fluid neurotransmitters of the newborn with neonatal asphyxia
-
Takaragi S., Horiuchi T., Miyahira H., et al. Cerebrospinal fluid neurotransmitters of the newborn with neonatal asphyxia. Acta. Paediatr. Jpn. 31 (1989) 745-747
-
(1989)
Acta. Paediatr. Jpn.
, vol.31
, pp. 745-747
-
-
Takaragi, S.1
Horiuchi, T.2
Miyahira, H.3
-
95
-
-
0026734192
-
Low CSF HVA levels in the Rett syndrome: a reflection of restricted synapse formation?
-
Nielsen J.B., Bertelsen A., and Lou H.C. Low CSF HVA levels in the Rett syndrome: a reflection of restricted synapse formation?. Brain Dev. 14 (1992) S63-65
-
(1992)
Brain Dev.
, vol.14
-
-
Nielsen, J.B.1
Bertelsen, A.2
Lou, H.C.3
-
96
-
-
0025266684
-
CSF and urine biogenic amine metabolites in Rett syndrome
-
Lekman A., Witt-Engerström I., Holmberg B., Percy A., Svennerholm L., and Hagberg B. CSF and urine biogenic amine metabolites in Rett syndrome. Clin. Genet. 37 (1990) 173-178
-
(1990)
Clin. Genet.
, vol.37
, pp. 173-178
-
-
Lekman, A.1
Witt-Engerström, I.2
Holmberg, B.3
Percy, A.4
Svennerholm, L.5
Hagberg, B.6
-
97
-
-
33745695582
-
Sepiapterin reductase deficiency an autosomal recessive dopa-responsive dystonia
-
Abeling N.G., Duran M., Bakker H.D., et al. Sepiapterin reductase deficiency an autosomal recessive dopa-responsive dystonia. Mol. Genet. Metab. 89 (2006) 116-120
-
(2006)
Mol. Genet. Metab.
, vol.89
, pp. 116-120
-
-
Abeling, N.G.1
Duran, M.2
Bakker, H.D.3
-
98
-
-
0038244051
-
Neonatal epileptic encephalopathy
-
Clayton P.T., Surtees R.A., DeVile C., Hyland K., and Heales S.J. Neonatal epileptic encephalopathy. Lancet 361 (2003) 1614
-
(2003)
Lancet
, vol.361
, pp. 1614
-
-
Clayton, P.T.1
Surtees, R.A.2
DeVile, C.3
Hyland, K.4
Heales, S.J.5
-
99
-
-
0041866529
-
The lumbar puncture for diagnosis of pediatric neurotransmitter diseases
-
Hyland K. The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. Ann. Neurol. 54 (2003) S13-S17
-
(2003)
Ann. Neurol.
, vol.54
-
-
Hyland, K.1
-
100
-
-
12344270964
-
HLPC with electrochemical and fluoresce detection procedures for the diagnosis of inborn errors of biogenic amines and pterines
-
Ormazabal A., García-Cazorla A., Fernández Y., Fernández- Álvarez E., Campistol J., and Artuch R. HLPC with electrochemical and fluoresce detection procedures for the diagnosis of inborn errors of biogenic amines and pterines. J. Neurosci. Methods 142 (2005) 153-158
-
(2005)
J. Neurosci. Methods
, vol.142
, pp. 153-158
-
-
Ormazabal, A.1
García-Cazorla, A.2
Fernández, Y.3
Fernández- Álvarez, E.4
Campistol, J.5
Artuch, R.6
-
101
-
-
0021240650
-
Monoamine metabolites in human cerebrospinal fluid HPLC/EC method
-
Mena M.A., Aguado E.G., and Yebenes J.G. Monoamine metabolites in human cerebrospinal fluid HPLC/EC method. Acta Neurol. Scan. 69 (1984) 218-225
-
(1984)
Acta Neurol. Scan.
, vol.69
, pp. 218-225
-
-
Mena, M.A.1
Aguado, E.G.2
Yebenes, J.G.3
-
102
-
-
0025187911
-
Qualitative and quantitative high performance liquid chromatographic analysis of monoamine neurotransmitters and metabolites in cerebrospinal fluid and brain tissue using reductive electrochemical detection
-
Schmidt D., Roznoski M., and Ebert M.H. Qualitative and quantitative high performance liquid chromatographic analysis of monoamine neurotransmitters and metabolites in cerebrospinal fluid and brain tissue using reductive electrochemical detection. Biomed. Chromatogr. 4 (1990) 215-220
-
(1990)
Biomed. Chromatogr.
, vol.4
, pp. 215-220
-
-
Schmidt, D.1
Roznoski, M.2
Ebert, M.H.3
-
103
-
-
0028109613
-
Simultaneous determination of tryptophan, 5-hydroxytryptophan, 5-hydroxytryptamine, 5-hyroxyindoleacetic acid, 4-hydroxy-3-methoxyphenylacetic acid and 3-methoxy-4-hydroxy-phenylglycol in human cerebrospinal fluid
-
Yi Y.H., Liao W.P., and Lu X. Simultaneous determination of tryptophan, 5-hydroxytryptophan, 5-hydroxytryptamine, 5-hyroxyindoleacetic acid, 4-hydroxy-3-methoxyphenylacetic acid and 3-methoxy-4-hydroxy-phenylglycol in human cerebrospinal fluid. J. Chromatogr. B. Biomed. Appl. 661 (1994) 144-148
-
(1994)
J. Chromatogr. B. Biomed. Appl.
, vol.661
, pp. 144-148
-
-
Yi, Y.H.1
Liao, W.P.2
Lu, X.3
-
104
-
-
38749135819
-
Analysis of cathecolamines and their metabolites in adrenal gland by liquid chromatography tandem mass spectrometry
-
Gu Q., Shi X., Yin P., Gao P., Lu X., and Xu G. Analysis of cathecolamines and their metabolites in adrenal gland by liquid chromatography tandem mass spectrometry. Anal. Chim. Acta 609 (2008) 192-200
-
(2008)
Anal. Chim. Acta
, vol.609
, pp. 192-200
-
-
Gu, Q.1
Shi, X.2
Yin, P.3
Gao, P.4
Lu, X.5
Xu, G.6
-
105
-
-
1642482444
-
Analysis of cathecolamines and related substances using porous graphitic carbon as separation media in liquid chromatography-tandem mass spectrometry
-
Törnkvist A., Sjöberg P.J., Markides K.E., and Bergquist J. Analysis of cathecolamines and related substances using porous graphitic carbon as separation media in liquid chromatography-tandem mass spectrometry. J. Chromatogr. B. Analyt. Technol. Biomed. Life. Sci. 801 (2004) 323-329
-
(2004)
J. Chromatogr. B. Analyt. Technol. Biomed. Life. Sci.
, vol.801
, pp. 323-329
-
-
Törnkvist, A.1
Sjöberg, P.J.2
Markides, K.E.3
Bergquist, J.4
-
106
-
-
1442301771
-
Capillary electrophoresis in the determination of anionic cathecholamine metabolites from patients' urine
-
Sirén H., Mielonen M., and Herlevi M. Capillary electrophoresis in the determination of anionic cathecholamine metabolites from patients' urine. Jour. Chromat. 1032 (2004) 289-297
-
(2004)
Jour. Chromat.
, vol.1032
, pp. 289-297
-
-
Sirén, H.1
Mielonen, M.2
Herlevi, M.3
-
107
-
-
0033385113
-
Effect of age on cerebrospinal fluid levels of metabolites of biopterin and biogenic amines
-
Komori H., Matsuishi T., Yamada S., Ueda N., Yamashita Y., and Kato H. Effect of age on cerebrospinal fluid levels of metabolites of biopterin and biogenic amines. Acta Paediatr. 88 (1999) 1344-1347
-
(1999)
Acta Paediatr.
, vol.88
, pp. 1344-1347
-
-
Komori, H.1
Matsuishi, T.2
Yamada, S.3
Ueda, N.4
Yamashita, Y.5
Kato, H.6
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