메뉴 건너뛰기




Volumn 17, Issue SUPPL. 3, 2002, Pages

Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid-responsive seizures

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; CATECHOLAMINE; CREATINE; FOLINIC ACID; SERINE;

EID: 0037000428     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (19)

References (61)
  • 1
    • 0023838498 scopus 로고
    • "Cerebral" lactic acidosis: Defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis
    • Brown GK, Haan EA, Kirby DM, et al: "Cerebral" lactic acidosis: Defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis. Eur J Pediatr 1988;147:10-14.
    • (1988) Eur. J. Pediatr. , vol.147 , pp. 10-14
    • Brown, G.K.1    Haan, E.A.2    Kirby, D.M.3
  • 2
    • 0025819954 scopus 로고
    • Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
    • DeVivo, DC, Trifiletti RR, Jacobson RL, et al: Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991;325:703-709.
    • (1991) N. Engl. J. Med. , vol.325 , pp. 703-709
    • DeVivo, D.C.1    Trifiletti, R.R.2    Jacobson, R.L.3
  • 3
    • 0023259537 scopus 로고
    • Non-ketotic hyperglycinaemia: Clinical and biochemical aspects
    • Tada K, Hayasaka K: Non-ketotic hyperglycinaemia: Clinical and biochemical aspects. Eur J Pediatr 1987;146:221-227.
    • (1987) Eur. J. Pediatr. , vol.146 , pp. 221-227
    • Tada, K.1    Hayasaka, K.2
  • 4
    • 0032904554 scopus 로고    scopus 로고
    • Continuing education in neurometabolic disorders-Serine deficiency disorders
    • de Koning TJ, Poll-The BT, Jaeken J: Continuing education in neurometabolic disorders-Serine deficiency disorders. Neuropediatrics 1999;30:1-4.
    • (1999) Neuropediatrics , vol.30 , pp. 1-4
    • de Koning, T.J.1    Poll-The, B.T.2    Jaeken, J.3
  • 5
    • 0029972570 scopus 로고    scopus 로고
    • 3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: Inborn errors of serine biosynthesis
    • Jaeken J, Detheux M, Van Maldergem L, et al: 3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: Inborn errors of serine biosynthesis. J Inherit Metab Dis 1996;19:223-226.
    • (1996) J. Inherit. Metab. Dis. , vol.19 , pp. 223-226
    • Jaeken, J.1    Detheux, M.2    Van Maldergem, L.3
  • 6
    • 0020366082 scopus 로고
    • Artifactual increases in the concentration of free GABA in samples of human cerebrospinal fluid are due to degradation of homocarnosine
    • Grove J, Schechter PJ, Tell G, et al: Artifactual increases in the concentration of free GABA in samples of human cerebrospinal fluid are due to degradation of homocarnosine. J Neurochem 1982;39:1061-1065.
    • (1982) J. Neurochem. , vol.39 , pp. 1061-1065
    • Grove, J.1    Schechter, P.J.2    Tell, G.3
  • 7
    • 0344809978 scopus 로고    scopus 로고
    • Combined method for the determination of gamma-aminobutyric and beta-alanine in cerebrospinal fluid by stable isotope dilution mass spectrometry
    • Struys EA, Guerand WS, ten Brink HJ, Jakobs C: Combined method for the determination of gamma-aminobutyric and beta-alanine in cerebrospinal fluid by stable isotope dilution mass spectrometry. J Chromatogr B Biomed Sci Appl 1999;732:245-249.
    • (1999) J. Chromatogr. B. Biomed. Sci. Appl. , vol.732 , pp. 245-249
    • Struys, E.A.1    Guerand, W.S.2    ten Brink, H.J.3    Jakobs, C.4
  • 8
    • 0029996653 scopus 로고    scopus 로고
    • Gamma-aminobutyric acid concentrations in the cerebrospinal fluid of newborn infants determined by high performance liquid chromatography
    • Giroux JD, Moisan-Cann C, Caroff J, et al: Gamma-aminobutyric acid concentrations in the cerebrospinal fluid of newborn infants determined by high performance liquid chromatography. Acta Paediatr 1996;85:595-597.
    • (1996) Acta Paediatr. , vol.85 , pp. 595-597
    • Giroux, J.D.1    Moisan-Cann, C.2    Caroff, J.3
  • 9
    • 0027465421 scopus 로고
    • Isocratic HPLC assay with electrochemical detection of free gamma-aminobutyric acid in cerebrospinal fluid
    • Naini AB, Vontzalidou E, Cote LJ: Isocratic HPLC assay with electrochemical detection of free gamma-aminobutyric acid in cerebrospinal fluid. Clin Chem 1993;39:247-250.
    • (1993) Clin. Chem. , vol.39 , pp. 247-250
    • Naini, A.B.1    Vontzalidou, E.2    Cote, L.J.3
  • 10
    • 0028342827 scopus 로고
    • Possible involvement of a gamma-hydroxybutyric acid receptor in startle disease
    • Berthier M, Bonneau D, Desbordes JM, et al: Possible involvement of a gamma-hydroxybutyric acid receptor in startle disease. Acta Paediatr 1994;83:678-680.
    • (1994) Acta Paediatr. , vol.83 , pp. 678-680
    • Berthier, M.1    Bonneau, D.2    Desbordes, J.M.3
  • 12
    • 0021673420 scopus 로고
    • Gamma-aminobutyric acid-transaminase deficiency: A newly recognized inborn error of neurotransmitter metabolism
    • Jaeken J, Casaer P, de Cock P, et al: Gamma-aminobutyric acid-transaminase deficiency: A newly recognized inborn error of neurotransmitter metabolism. Neuropediatrics 1984;15:165-169.
    • (1984) Neuropediatrics , vol.15 , pp. 165-169
    • Jaeken, J.1    Casaer, P.2    de Cock, P.3
  • 13
    • 0026683048 scopus 로고
    • Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease
    • Dubowitz LM, Bouza H, Hird MF, Jaeken J: Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. Lancet 1992;1340:80-81.
    • (1992) Lancet , vol.340 , pp. 80-81
    • Dubowitz, L.M.1    Bouza, H.2    Hird, M.F.3    Jaeken, J.4
  • 14
    • 0027330927 scopus 로고
    • Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
    • Shiang R, Ryan SG, Zhu YZ, et al: Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet 1993;5:351-358.
    • (1993) Nat. Genet. , vol.5 , pp. 351-358
    • Shiang, R.1    Ryan, S.G.2    Zhu, Y.Z.3
  • 15
    • 0031972016 scopus 로고    scopus 로고
    • Cerebrospinal fluid investigations for neurometabolic disorders
    • Hoffmann GF, Surtees RA, Wevers RA: Cerebrospinal fluid investigations for neurometabolic disorders. Neuropediatrics 1998;29: 59-71.
    • (1998) Neuropediatrics , vol.29 , pp. 59-71
    • Hoffmann, G.F.1    Surtees, R.A.2    Wevers, R.A.3
  • 16
    • 0027753762 scopus 로고
    • Effect of long-term vigabatrin therapy on GABA and other amino acid concentrations in the central nervous system - A case study
    • Ben-Menachem E, Hamberger A, Mumford J: Effect of long-term vigabatrin therapy on GABA and other amino acid concentrations in the central nervous system - A case study. Epilepsy Res 1993;16:241-243.
    • (1993) Epilepsy Res. , vol.16 , pp. 241-243
    • Ben-Menachem, E.1    Hamberger, A.2    Mumford, J.3
  • 17
    • 0034764751 scopus 로고    scopus 로고
    • Arginine:glycine amidinotransferase deficiency: The third inborn error of creatine metabolism in humans
    • Item CB, Stöckler-Ipsiroglu S, Stromberger C, et al: Arginine:glycine amidinotransferase deficiency: The third inborn error of creatine metabolism in humans. Am J Hum Genet 2001;69:1127-1133.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 1127-1133
    • Item, C.B.1    Stöckler-Ipsiroglu, S.2    Stromberger, C.3
  • 18
    • 0029959969 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency: The first inborn error of creatine metabolism in man
    • Stöckler S, Isbrandt D, Hanefeld F, et al: Guanidinoacetate methyltransferase deficiency: The first inborn error of creatine metabolism in man. Am J Hum Genet 1996;58:914-922.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 914-922
    • Stöckler, S.1    Isbrandt, D.2    Hanefeld, F.3
  • 19
    • 0034987448 scopus 로고    scopus 로고
    • X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome
    • Salomons GS, van Dooren SJ, Verhoeven NM, et al: X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome. Am J Hum Genet 2001;68:1497-1500.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 1497-1500
    • Salomons, G.S.1    van Dooren, S.J.2    Verhoeven, N.M.3
  • 20
    • 0030833384 scopus 로고    scopus 로고
    • Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis
    • Stöckler S, Marescau B, De Deyn PP, et al: Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. Metabolism 1997;46:1189-1193.
    • (1997) Metabolism , vol.46 , pp. 1189-1193
    • Stöckler, S.1    Marescau, B.2    De Deyn, P.P.3
  • 21
    • 0032446322 scopus 로고    scopus 로고
    • An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency
    • Struys EA, Jansen EE, ten Brink HJ, et al: An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. J Pharm Biomed Anal 1998;18:659-665.
    • (1998) J. Pharm. Biomed. Anal. , vol.18 , pp. 659-665
    • Struys, E.A.1    Jansen, E.E.2    ten Brink, H.J.3
  • 22
    • 0032722925 scopus 로고    scopus 로고
    • Value of lumbar puncture in the diagnosis of genetic metabolic encephalopathies
    • Hyland K, Arnold LA: Value of lumbar puncture in the diagnosis of genetic metabolic encephalopathies. J Child Neurol 1999; 14(Suppl 1):S9-S15.
    • (1999) J. Child Neurol. , vol.14 , Issue.SUPPL. 1
    • Hyland, K.1    Arnold, L.A.2
  • 23
    • 0000138089 scopus 로고    scopus 로고
    • Disorders of tetrahydrobiopterin and related biogenic amines
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds): New York, McGraw-Hill
    • Blau N, Thony B, Cotton RG, Hyland K: Disorders of tetrahydrobiopterin and related biogenic amines, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, 2001, 1725-1776.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1725-1776
    • Blau, N.1    Thony, B.2    Cotton, R.G.3    Hyland, K.4
  • 24
    • 0034928621 scopus 로고    scopus 로고
    • Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
    • Bonafe L, Thony B, Penzien JM, et al: Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 2001;69:269-277.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 269-277
    • Bonafe, L.1    Thony, B.2    Penzien, J.M.3
  • 25
    • 0034788778 scopus 로고    scopus 로고
    • Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of doparesponsive dystonia and sepiapterin reductase deficiency
    • Blau N, Bonafe L, Thony B: Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of doparesponsive dystonia and sepiapterin reductase deficiency. Mol Genet Melab 2001;74:172-185.
    • (2001) Mol. Genet. Metab. , vol.74 , pp. 172-185
    • Blau, N.1    Bonafe, L.2    Thony, B.3
  • 26
    • 0028151448 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    • Ichinose H, Ohye T, Takahashi E, et al: Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994;18:236-242.
    • (1994) Nat. Genet. , vol.18 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3
  • 27
    • 0031926568 scopus 로고    scopus 로고
    • Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations
    • Furukawa Y, Kish SJ, Bebin EM, et al: Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Ann Neurol 1998;144:10-16.
    • (1998) Ann. Neurol. , vol.144 , pp. 10-16
    • Furukawa, Y.1    Kish, S.J.2    Bebin, E.M.3
  • 28
    • 0016913614 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation
    • Eldredge R, Fahn S (eds): New York, Raven Press
    • Segawa M, Hosaka A, Miyagawa F, et al: Hereditary progressive dystonia with marked diurnal fluctuation., in Eldredge R, Fahn S (eds): Advances in Neurology. New York, Raven Press, 1976, 215-220.
    • (1976) Advances in Neurology , pp. 215-220
    • Segawa, M.1    Hosaka, A.2    Miyagawa, F.3
  • 30
    • 0024044777 scopus 로고
    • Treatable dystonia presenting as spastic cerebral palsy
    • Fink JK, Filling-Katz MR, Barton NW, et at: Treatable dystonia presenting as spastic cerebral palsy. Pediatrics 1988;82:137-138.
    • (1988) Pediatrics , vol.82 , pp. 137-138
    • Fink, J.K.1    Filling-Katz, M.R.2    Barton, N.W.3
  • 31
    • 0027354029 scopus 로고
    • Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis
    • Nygaard TG: Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol 1993;60: 577-585.
    • (1993) Adv. Neurol. , vol.60 , pp. 577-585
    • Nygaard, T.G.1
  • 32
    • 0032710990 scopus 로고    scopus 로고
    • Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency
    • Brautigam C, Steenbergen-Spanjers GC, Hoffmann GF, et al: Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. Clin Chem 1999;45: 2073-2078.
    • (1999) Clin. Chem. , vol.45 , pp. 2073-2078
    • Brautigam, C.1    Steenbergen-Spanjers, G.C.2    Hoffmann, G.F.3
  • 33
    • 0034110552 scopus 로고    scopus 로고
    • Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism
    • Swaans RJ, Rondot P, Renier WO, et al: Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. Ann Hum Genet 2000;64:25-31.
    • (2000) Ann. Hum. Genet. , vol.64 , pp. 25-31
    • Swaans, R.J.1    Rondot, P.2    Renier, W.O.3
  • 34
    • 0030035985 scopus 로고    scopus 로고
    • Recessively inherited L-dopa-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
    • Ludecke B, Knappskog PM, Clayton PT, etal: Recessively inherited L-dopa-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet 1996;15:1023-1028.
    • (1996) Hum. Mol. Genet. , vol.15 , pp. 1023-1028
    • Ludecke, B.1    Knappskog, P.M.2    Clayton, P.T.3
  • 35
    • 0035936609 scopus 로고    scopus 로고
    • Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations
    • Furukawa Y, Graf WD, Wong H, et al: Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. Neurology 2001;56:260-263.
    • (2001) Neurology , vol.56 , pp. 260-263
    • Furukawa, Y.1    Graf, W.D.2    Wong, H.3
  • 36
    • 0029049876 scopus 로고
    • Recessively inherited L-dopa-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
    • Knappskog PM, Flatmark T, Mallet J, et al: Recessively inherited L-dopa-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 1995;14: 1209-1212.
    • (1995) Hum. Mol. Genet. , vol.14 , pp. 1209-1212
    • Knappskog, P.M.1    Flatmark, T.2    Mallet, J.3
  • 37
    • 17744394691 scopus 로고    scopus 로고
    • Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation
    • De Lonlay P, Nassogne MC, van Gennip A.H, et al: Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. J Inherit Metab Dis 2000; 23:819-825.
    • (2000) J. Inherit. Metab. Dis. , vol.23 , pp. 819-825
    • De Lonlay, P.1    Nassogne, M.C.2    van Gennip, A.H.3
  • 38
    • 0026785903 scopus 로고
    • Aromatic L-amino acid decarboxylase deficiency: Clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis
    • Hyland K, Surtees RA, Rodeck C, Clayton PT: Aromatic L-amino acid decarboxylase deficiency: Clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology 1992;42:1980-1988.
    • (1992) Neurology , vol.42 , pp. 1980-1988
    • Hyland, K.1    Surtees, R.A.2    Rodeck, C.3    Clayton, P.T.4
  • 39
    • 0032834342 scopus 로고    scopus 로고
    • Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency
    • Swoboda K, Hyland K, Goldstein D, et al: Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency. Neurology 1999;53:1205-1211.
    • (1999) Neurology , vol.53 , pp. 1205-1211
    • Swoboda, K.1    Hyland, K.2    Goldstein, D.3
  • 40
    • 0036695861 scopus 로고    scopus 로고
    • Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies
    • Fiamura A, Brautigam C, Hyland K, et al: Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies. Neuropediatrics 2002;33:203-208.
    • (2002) Neuropediatrics , vol.33 , pp. 203-208
    • Fiamura, A.1    Brautigam, C.2    Hyland, K.3
  • 41
    • 0031927867 scopus 로고    scopus 로고
    • Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings
    • Abeling NG, van Gennip AH, Barth PG, et al: Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings. J Inherit Metab Dis 1998;21:240-242.
    • (1998) J. Inherit. Metab. Dis. , vol.21 , pp. 240-242
    • Abeling, N.G.1    van Gennip, A.H.2    Barth, P.G.3
  • 42
    • 0013430289 scopus 로고    scopus 로고
    • Autistic syndrome and aromatic L-amino acid decarboxylase (AADC) deficiency, abstract
    • Burlina AB, Burlina AP, Hyland K, et at: Autistic syndrome and aromatic L-amino acid decarboxylase (AADC) deficiency, abstract. J Inherit Metab Dis 2001;24(Suppl 1):34.
    • (2001) J. Inherit. Metab. Dis. , vol.24 , Issue.SUPPL. 1 , pp. 34
    • Burlina, A.B.1    Burlina, A.P.2    Hyland, K.3
  • 43
    • 0025772671 scopus 로고
    • Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation
    • Robertson D, Haile V, Perry SE, et al: Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation. Hypertension 1991;18:1-8.
    • (1991) Hypertension , vol.18 , pp. 1-8
    • Robertson, D.1    Haile, V.2    Perry, S.E.3
  • 44
    • 0031596682 scopus 로고    scopus 로고
    • Monoamine oxidase A deficiency: Biogenic amine metabolites in random urine samples
    • Abeling NG, van Gennip AH, van Cruchten AG, et al: Monoamine oxidase A deficiency: Biogenic amine metabolites in random urine samples. J Neurol Transm Suppl 1998;52:9-15.
    • (1998) J. Neurol. Transm. Suppl. , vol.52 , pp. 9-15
    • Abeling, N.G.1    van Gennip, A.H.2    van Cruchten, A.G.3
  • 45
    • 0022342205 scopus 로고
    • Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis
    • de la Chapelle A, Sankila EM, Lindlof M, et al: Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis. Clin Genet 1985;28:317-320.
    • (1985) Clin. Genet. , vol.28 , pp. 317-320
    • de la Chapelle, A.1    Sankila, E.M.2    Lindlof, M.3
  • 46
    • 0027442475 scopus 로고
    • Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A
    • Brunner HG, Nelen M, Breakefield XO, et al: Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 1993;262:578-580.
    • (1993) Science , vol.262 , pp. 578-580
    • Brunner, H.G.1    Nelen, M.2    Breakefield, X.O.3
  • 47
    • 0026508778 scopus 로고
    • Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes
    • Collins FA, Murphy DL, Reiss AL, et al: Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes. Am J Med Genet 1992;42:127-134.
    • (1992) Am. J. Med. Genet. , vol.42 , pp. 127-134
    • Collins, F.A.1    Murphy, D.L.2    Reiss, A.L.3
  • 48
    • 13344281037 scopus 로고    scopus 로고
    • Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes
    • Lenders JW, Eisenhofer G, Abeling NG, et al: Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes. J Clin Invest 1996;197:1010-1019.
    • (1996) J. Clin. Invest. , vol.197 , pp. 1010-1019
    • Lenders, J.W.1    Eisenhofer, G.2    Abeling, N.G.3
  • 49
    • 0019378785 scopus 로고
    • EEG in phenylketonuria. Attempt to establish clinical importance of EEG changes
    • Gross PT, Berlow S, Schuett VE, Fariello RG: EEG in phenylketonuria. Attempt to establish clinical importance of EEG changes. Arch Neurol 1981;138:122-126.
    • (1981) Arch. Neurol. , vol.138 , pp. 122-126
    • Gross, P.T.1    Berlow, S.2    Schuett, V.E.3    Fariello, R.G.4
  • 50
    • 0017507361 scopus 로고
    • Convulsions in phenylketonuria and the pattern of the bioelectric activity of the brain
    • Koslacz-Folga A, Jackowska K, Czochanska J, et al: Convulsions in phenylketonuria and the pattern of the bioelectric activity of the brain. Neurol Neurochir Pol 1977;11:407-413.
    • (1977) Neurol. Neurochir. Pol. , vol.11 , pp. 407-413
    • Koslacz-Folga, A.1    Jackowska, K.2    Czochanska, J.3
  • 51
    • 0028349156 scopus 로고
    • Nitric oxide synthases in mammals
    • Knowles RG, Moncada S: Nitric oxide synthases in mammals. Biochem J 1994;298:249-258.
    • (1994) Biochem. J. , vol.298 , pp. 249-258
    • Knowles, R.G.1    Moncada, S.2
  • 52
    • 0030606932 scopus 로고    scopus 로고
    • Impairment of the nitric oxide/cyclic GMP pathway in cerebellar slices prepared from the hph-1 mouse
    • Brand MP, Briddon A, Land JM, et al: Impairment of the nitric oxide/cyclic GMP pathway in cerebellar slices prepared from the hph-1 mouse. Brain Res 1996;735:169-172.
    • (1996) Brain Res. , vol.735 , pp. 169-172
    • Brand, M.P.1    Briddon, A.2    Land, J.M.3
  • 53
    • 0033040745 scopus 로고    scopus 로고
    • Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentration
    • Heales SJ, Canevari L, Brand MP, et al: Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentration. J Inherit Metab Dis 1999;22:221-223.
    • (1999) J. Inherit. Metab. Dis. , vol.22 , pp. 221-223
    • Heales, S.J.1    Canevari, L.2    Brand, M.P.3
  • 54
    • 0035313948 scopus 로고    scopus 로고
    • Nitric oxide: A novel link between synaptic and nonsynaptic transmission
    • Kiss JP, Vizi ES: Nitric oxide: A novel link between synaptic and nonsynaptic transmission. Trends Neurosci 2001;24:211-215.
    • (2001) Trends Neurosci. , vol.24 , pp. 211-215
    • Kiss, J.P.1    Vizi, E.S.2
  • 55
    • 0035283321 scopus 로고    scopus 로고
    • Expression and function of inducible nitric oxide synthase in neurons
    • Heneka MT, Feinstein DL: Expression and function of inducible nitric oxide synthase in neurons. J Neuroimmunol 2001;114:8-18.
    • (2001) J. Neuroimmunol. , vol.114 , pp. 8-18
    • Heneka, M.T.1    Feinstein, D.L.2
  • 56
    • 0033773716 scopus 로고    scopus 로고
    • Role of nitric oxide in the control of the hypothalamic-pituitary-adrenocortical axis
    • Riedel W. Role of nitric oxide in the control of the hypothalamic-pituitary-adrenocortical axis. Z Rheumatol 2000;59(Suppl 2):36-42.
    • (2000) Z. Rheumatol. , vol.59 , Issue.SUPPL. 2 , pp. 36-42
    • Riedel, W.1
  • 57
    • 0035101782 scopus 로고    scopus 로고
    • Nitric oxide as modulator of neuronal function
    • Prast H, Philippu A: Nitric oxide as modulator of neuronal function. Prog Neurobiol 2001;64:51-68.
    • (2001) Prog. Neurobiol. , vol.64 , pp. 51-68
    • Prast, H.1    Philippu, A.2
  • 60
    • 0013418809 scopus 로고    scopus 로고
    • Confusing CSF neurochemical picture suggesting 6-pyruvoyltetrahydropterin synthase deficiency in neonates with probable hypoxic-ischemic encephalopathy
    • Hyland K, Peterschmitt MJ, Soull JS, et al: Confusing CSF neurochemical picture suggesting 6-pyruvoyltetrahydropterin synthase deficiency in neonates with probable hypoxic-ischemic encephalopathy. J Inherit Metab Dis 1999;22:18.
    • (1999) J. Inherit. Metab. Dis. , vol.22 , pp. 18
    • Hyland, K.1    Peterschmitt, M.J.2    Soull, J.S.3
  • 61
    • 0021264311 scopus 로고
    • Immune response-associated production of neopterin. Release from macrophages primarily under control of interferon-gamma
    • Huber C, Batchelor JR, Fuchs D, et al: Immune response-associated production of neopterin. Release from macrophages primarily under control of interferon-gamma. J Exp Med 1984;160: 310-316.
    • (1984) J. Exp. Med. , vol.160 , pp. 310-316
    • Huber, C.1    Batchelor, J.R.2    Fuchs, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.