메뉴 건너뛰기




Volumn 44, Issue 10, 2002, Pages 712-720

Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BENZOIC ACID; CLONAZEPAM; CORTICOTROPIN; GLYCINE; HYDANTOIN; KETAMINE; PHENOBARBITAL; TOPIRAMATE; VALPROIC ACID; VIGABATRIN;

EID: 0036772660     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0012162201002808     Document Type: Review
Times cited : (57)

References (104)
  • 1
    • 0000086555 scopus 로고    scopus 로고
    • Non-ketotic hyperglycinemia
    • In: Scriver CR, Beauder AL, Sly WS, Valle D, editors; New York: McGraw-Hill.
    • Hamosh A, Johnston MV. (2001) Non-ketotic hyperglycinemia. In: Scriver CR, Beauder AL, Sly WS, Valle D, editors. The Metabolic & Molecular Bases of Inherited Disease. 8th edn. New York: McGraw-Hill. p 2065-78.
    • (2001) The Metabolic & Molecular Bases of Inherited Disease. 8th edn. , pp. 2065-2078
    • Hamosh, A.1    Johnston, M.V.2
  • 2
    • 0027284252 scopus 로고
    • Non-ketotic hyperglycinaemia: Molecular lesion, diagnosis, and pathophysiology
    • Tada K, Kure S. (1993) Non-ketotic hyperglycinaemia: molecular lesion, diagnosis, and pathophysiology. Journal of Inherited Metabolic Disease 16: 691-703.
    • (1993) Journal of Inherited Metabolic Disease , vol.16 , pp. 691-703
    • Tada, K.1    Kure, S.2
  • 4
    • 0017595329 scopus 로고
    • Non-ketotic hyperglycinemia in two sibs with mild psychoneurological symptoms
    • Holmgren G, Blomquist HK. (1977) Non-ketotic hyperglycinemia in two sibs with mild psychoneurological symptoms. Neuropediatrics 8: 67-72.
    • (1977) Neuropediatrics , vol.8 , pp. 67-72
    • Holmgren, G.1    Blomquist, H.K.2
  • 9
    • 0020590463 scopus 로고
    • Non-ketotic hyperglycinemia in two retarded adults: A mild form of infantile non-ketotic hyperglycinemia
    • Flannery DB, Pellock J, Bousounis D, Hunt P, Nance C, Wolf B. (1983) Non-ketotic hyperglycinemia in two retarded adults: a mild form of infantile non-ketotic hyperglycinemia. Neurology 33: 1064-6.
    • (1983) Neurology , vol.33 , pp. 1064-1066
    • Flannery, D.B.1    Pellock, J.2    Bousounis, D.3    Hunt, P.4    Nance, C.5    Wolf, B.6
  • 11
    • 0022512038 scopus 로고
    • Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia. Observations on sisters with a mild T-protein defect
    • Haan EA, Kirby DM, Tada K, Hayasaka K, Danks DM. (1986) Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia. Observations on sisters with a mild T-protein defect. European Journal of Pediatrics 145: 267-70.
    • (1986) European Journal of Pediatrics , vol.145 , pp. 267-270
    • Haan, E.A.1    Kirby, D.M.2    Tada, K.3    Hayasaka, K.4    Danks, D.M.5
  • 12
    • 0024507664 scopus 로고
    • Non-ketotic hyperglycinemia: Studies in an atypical variant
    • Singer HS, Valle D, Hayasaka K, Tada K. (1989) Non-ketotic hyperglycinemia: studies in an atypical variant. Neurology 39: 286-8.
    • (1989) Neurology , vol.39 , pp. 286-288
    • Singer, H.S.1    Valle, D.2    Hayasaka, K.3    Tada, K.4
  • 13
    • 0027315638 scopus 로고
    • Atypical non-ketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts
    • Christodoulou J, Kure S, Hayasaka K, Clarke JT. (1993) Atypical non-ketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts. Journal of Pediatrics 123: 100-2.
    • (1993) Journal of Pediatrics , vol.123 , pp. 100-102
    • Christodoulou, J.1    Kure, S.2    Hayasaka, K.3    Clarke, J.T.4
  • 14
    • 0027639734 scopus 로고
    • Blindness due to non-ketotic hyperglycinemia: Report of a 38-year-old - The oldest case to date
    • Tanaka Y, Miyazaki M, Tsuda M, Murai K, Kuzuhara S. (1993) Blindness due to non-ketotic hyperglycinemia: report of a 38-year-old - the oldest case to date. Internal Medicine 32: 641-2.
    • (1993) Internal Medicine , vol.32 , pp. 641-642
    • Tanaka, Y.1    Miyazaki, M.2    Tsuda, M.3    Murai, K.4    Kuzuhara, S.5
  • 16
    • 0029658439 scopus 로고    scopus 로고
    • Non-kinetic hyperglycinaemia: Prolonged survival in a patient with a mild variant
    • Wraith JE. (1996) Non-kinetic hyperglycinaemia: prolonged survival in a patient with a mild variant. Journal of Inherited Metabolic Disease 19: 695-6.
    • (1996) Journal of Inherited Metabolic Disease , vol.19 , pp. 695-696
    • Wraith, J.E.1
  • 23
    • 0026669059 scopus 로고
    • Neurologic sequelae in transient non-ketotic hyperglycinemia of the neonate
    • Eyskens FJ, Van Doorn JW, Marien P. (1992) Neurologic sequelae in transient non-ketotic hyperglycinemia of the neonate. Journal of Pediatrics 121: 620-1.
    • (1992) Journal of Pediatrics , vol.121 , pp. 620-621
    • Eyskens, F.J.1    Van Doorn, J.W.2    Marien, P.3
  • 24
    • 0028803321 scopus 로고
    • Transient neonatal non-ketotic hyperglycinemia: A 13-year follow-up
    • Zammarchi E, Donati MA, Ciani F. (1995) Transient neonatal non-ketotic hyperglycinemia: a 13-year follow-up. Neuropediatrics 26: 328-30.
    • (1995) Neuropediatrics , vol.26 , pp. 328-330
    • Zammarchi, E.1    Donati, M.A.2    Ciani, F.3
  • 26
    • 0034059639 scopus 로고    scopus 로고
    • Transient non-ketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures
    • Maeda T, Inutsuka M, Goto K, Izumi T. (2000) Transient non-ketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures. Pediatric Neurology 22: 225-7.
    • (2000) Pediatric Neurology , vol.22 , pp. 225-227
    • Maeda, T.1    Inutsuka, M.2    Goto, K.3    Izumi, T.4
  • 27
    • 0018412829 scopus 로고
    • Non-ketotic hyperglycinemia. A genetic study of 13 Finnish families
    • von Wendt L, Hirvasniemi A, Simila S. (1979) Non-ketotic hyperglycinemia. A genetic study of 13 Finnish families. Clinical Genetics 15: 411-7.
    • (1979) Clinical Genetics , vol.15 , pp. 411-417
    • Von Wendt, L.1    Hirvasniemi, A.2    Simila, S.3
  • 28
    • 0024431007 scopus 로고
    • Use of placental enzyme analysis in assessment of the newborn at risk for non-ketotic hyperglycinaemia (NKH)
    • Toone JR, Applegarth DA. (1989) Use of placental enzyme analysis in assessment of the newborn at risk for non-ketotic hyperglycinaemia (NKH). Journal of Inherited Metabolic Disease 12: 281-5.
    • (1989) Journal of Inherited Metabolic Disease , vol.12 , pp. 281-285
    • Toone, J.R.1    Applegarth, D.A.2
  • 29
    • 0033631258 scopus 로고    scopus 로고
    • Incidence of inborn errors of metabolism in British Columbia, 1969-1996
    • Applegarth DA, Toone JR, Lowry RB. (2000) Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics www.pediatrics.org/cgi/content/full/05/1/e10
    • (2000) Pediatrics
    • Applegarth, D.A.1    Toone, J.R.2    Lowry, R.B.3
  • 30
    • 0030248468 scopus 로고    scopus 로고
    • Prognostic clues and outcome of early treatment of non-ketotic hyperglycinemia
    • Boneh A, Degani Y, Harari M. (1996) Prognostic clues and outcome of early treatment of non-ketotic hyperglycinemia. Pediatric Neurology 155: 137-41.
    • (1996) Pediatric Neurology , vol.15 , pp. 137-141
    • Boneh, A.1    Degani, Y.2    Harari, M.3
  • 32
    • 0032839145 scopus 로고    scopus 로고
    • Prenatal diagnosis of non-ketotic hyperglycinaemia: Enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations
    • Kure S, Rolland MO, Leisti J, Mandel H, Sakata Y, Tada K, Matsubara Y, Narisawa K. (1999) Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations. Prenatal Diagnosis 19: 717-20.
    • (1999) Prenatal Diagnosis , vol.19 , pp. 717-720
    • Kure, S.1    Rolland, M.O.2    Leisti, J.3    Mandel, H.4    Sakata, Y.5    Tada, K.6    Matsubara, Y.7    Narisawa, K.8
  • 33
    • 0021015809 scopus 로고
    • Non-ketotic hyperglycinemia: Two patients with primary defects of P-protein and T-protein respectively, in the glycine cleavage system
    • Hayasaka K, Tada K, Kikuchi G, Winter S, Nyhan WL. (1983) Non-ketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein respectively, in the glycine cleavage system. Pediatric Research 17: 967-70.
    • (1983) Pediatric Research , vol.17 , pp. 967-970
    • Hayasaka, K.1    Tada, K.2    Kikuchi, G.3    Winter, S.4    Nyhan, W.L.5
  • 34
    • 0026536847 scopus 로고
    • Enzymatic diagnosis of non-ketotic hyperglycinemia with lymphoblasts
    • Kure S, Narisawa K, Tada K. (1992) Enzymatic diagnosis of non-ketotic hyperglycinemia with lymphoblasts. Journal of Pediatrics 120: 95-8.
    • (1992) Journal of Pediatrics , vol.120 , pp. 95-98
    • Kure, S.1    Narisawa, K.2    Tada, K.3
  • 35
    • 0034788469 scopus 로고    scopus 로고
    • Non-ketotic hyperglycinemia (glycine encephalopathy): Laboratory diagnosis
    • Applegarth DA, Toone JR. (2001) Non-ketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Molecular Genetics and Metabolism 74: 139-46
    • (2001) Molecular Genetics and Metabolism , vol.74 , pp. 139-146
    • Applegarth, D.A.1    Toone, J.R.2
  • 38
    • 0035219821 scopus 로고    scopus 로고
    • Identification of the first reported splice site mutation (IVS7-1G-A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage. complex in 3 unrelated families with non-ketotic hyperglycinemia
    • Toone JR, Applegarth DA, Coulter-Mackie MB, James ER. (2001) Identification of the first reported splice site mutation (IVS7-1G-A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage. complex in 3 unrelated families with non-ketotic hyperglycinemia. Human Mutatation 17: 76.
    • (2001) Human Mutatation , vol.17 , pp. 76
    • Toone, J.R.1    Applegarth, D.A.2    Coulter-Mackie, M.B.3    James, E.R.4
  • 39
    • 0035715366 scopus 로고    scopus 로고
    • Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): A strategy for the molecular in investigation of patients with non-ketotic hyperglycinemia (NKH)
    • Toone JR, Applegarth DA, Coulter-Mackie MB, James ER. (2001) Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular in investigation of patients with non-ketotic hyperglycinemia (NKH). Molecular Genetics and Metabolism 72: 322-5.
    • (2001) Molecular Genetics and Metabolism , vol.72 , pp. 322-325
    • Toone, J.R.1    Applegarth, D.A.2    Coulter-Mackie, M.B.3    James, E.R.4
  • 40
    • 17844406376 scopus 로고    scopus 로고
    • Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for non-ketotic hyperglycinemia
    • Kure S, Kojima K, Kudo T, Kanno K, Aoki Y, Suzuki Y, Shinka T, Sakata Y, Narisawa K, Matsubara Y. (2001) Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for non-ketotic hyperglycinemia. Journal of Human Genetics 46: 378-84.
    • (2001) Journal of Human Genetics , vol.46 , pp. 378-384
    • Kure, S.1    Kojima, K.2    Kudo, T.3    Kanno, K.4    Aoki, Y.5    Suzuki, Y.6    Shinka, T.7    Sakata, Y.8    Narisawa, K.9    Matsubara, Y.10
  • 42
    • 0034036029 scopus 로고    scopus 로고
    • Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): Their structure and expression, and the identification of a large deletion in a family with non-ketotic hyperglycinemia
    • Takayanagi M, Kure S, Sakata Y, Kurihara Y, Ohya Y, Kajita M, Tada K, Matsubara Y, Narisawa K. (2000) Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with non-ketotic hyperglycinemia. Human Genetics 106: 298-305.
    • (2000) Human Genetics , vol.106 , pp. 298-305
    • Takayanagi, M.1    Kure, S.2    Sakata, Y.3    Kurihara, Y.4    Ohya, Y.5    Kajita, M.6    Tada, K.7    Matsubara, Y.8    Narisawa, K.9
  • 44
    • 0018413444 scopus 로고
    • Inhibition of the glycine cleavage system by branched-chain amino acid metabolites
    • Kolvraa S. (1979) Inhibition of the glycine cleavage system by branched-chain amino acid metabolites. Pediatric Research 18: 889-93.
    • (1979) Pediatric Research , vol.13 , pp. 889-893
    • Kolvraa, S.1
  • 46
    • 0020519357 scopus 로고
    • Effects of the metabolites of the branched-chain amino acids and cysteamine on the glycine cleavage system
    • Hayasaka K, Tada K. (1983) Effects of the metabolites of the branched-chain amino acids and cysteamine on the glycine cleavage system. Biochemistry International 6: 225-30.
    • (1983) Biochemistry International , vol.6 , pp. 225-230
    • Hayasaka, K.1    Tada, K.2
  • 47
    • 17144454593 scopus 로고
    • Hyperglyceric-acidaemia with hyperglycinaemia: A new inborn error of metabolism
    • (Letter)
    • Brandt NJ, Brandt S, Rasmussen K, Schonheyder F. (1994) Hyperglyceric-acidaemia with hyperglycinaemia: a new inborn error of metabolism. British Medical Journal 4: 344. (Letter).
    • (1974) British Medical Journal , vol.4 , pp. 344
    • Brandt, N.J.1    Brandt, S.2    Rasmussen, K.3    Schonheyder, F.4
  • 54
    • 0017148760 scopus 로고
    • D-glyceric acidemia: Biochemical studies of a new syndrome
    • Kolvraa S, Rasmussen K, Brandt NJ. (1976) D-glyceric acidemia: biochemical studies of a new syndrome. Pediatric Research 10: 825-30.
    • (1976) Pediatric Research , vol.10 , pp. 825-830
    • Kolvraa, S.1    Rasmussen, K.2    Brandt, N.J.3
  • 55
    • 0024497062 scopus 로고
    • D-glycerate kinase deficiency as a cause of D-glyceric aciduria
    • Van Schaftingen E. (1989) D-glycerate kinase deficiency as a cause of D-glyceric aciduria. FEBS Letters 243: 127-31.
    • (1989) FEBS Letters , vol.243 , pp. 127-131
    • Van Schaftingen, E.1
  • 57
    • 0017226125 scopus 로고
    • D-glyceric-acidaemia and non-ketotic hyperglycinaemia. Clinical and laboratory findings in a new syndrome
    • Brandt NJ, Rasmussen K, Brandt S, Kolvraa S, Schonheyder F. (1976) D-glyceric-acidaemia and non-ketotic hyperglycinaemia. Clinical and laboratory findings in a new syndrome. Acta Paediatrica Scandinavica 65: 17-22.
    • (1976) Acta Paediatrica Scandinavica , vol.65 , pp. 17-22
    • Brandt, N.J.1    Rasmussen, K.2    Brandt, S.3    Kolvraa, S.4    Schonheyder, F.5
  • 58
    • 0018849385 scopus 로고
    • Studies of the glycine metabolism in a patient with D-glyceric acidemia and hyperglycinemia
    • Kolvraa S, Christensen E, Brandt NJ. (1980) Studies of the glycine metabolism in a patient with D-glyceric acidemia and hyperglycinemia. Pediatric Research 14: 1029-34.
    • (1980) Pediatric Research , vol.14 , pp. 1029-1034
    • Kolvraa, S.1    Christensen, E.2    Brandt, N.J.3
  • 60
    • 0018936069 scopus 로고
    • Excretion of short-chain N-acylglycines in the urine of a patient with D-glyceric acidemia
    • Kolvraa S, Gregersen N, Brandt NJ. (1980) Excretion of short-chain N-acylglycines in the urine of a patient with D-glyceric acidemia. Clinica Chimica Acta 106: 215-21.
    • (1980) Clinica Chimica Acta , vol.106 , pp. 215-221
    • Kolvraa, S.1    Gregersen, N.2    Brandt, N.J.3
  • 61
    • 0020964323 scopus 로고
    • Normal glycine transport in cultured diploid fibroblasts from hyperglycinaemic subjects
    • Kolvraa S, Rosleff F, Brandt NJ. (1983) Normal glycine transport in cultured diploid fibroblasts from hyperglycinaemic subjects. Journal of Inherited Metabolic Disease 6: 82-4.
    • (1983) Journal of Inherited Metabolic Disease , vol.6 , pp. 82-84
    • Kolvraa, S.1    Rosleff, F.2    Brandt, N.J.3
  • 62
    • 0021592363 scopus 로고
    • In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia
    • Kolvraa S, Gregersen N, Christensen E. (1984) In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia. Journal of Inherited Metabolic Disease 7: 49-52.
    • (1984) Journal of Inherited Metabolic Disease , vol.7 , pp. 49-52
    • Kolvraa, S.1    Gregersen, N.2    Christensen, E.3
  • 64
    • 0003153273 scopus 로고
    • A newly recognized inherited neurological disease with carbohydrate-deficient secretory glycoproteins
    • In: Wetterberg L, editor; New York: Macmillan
    • Jaeken J. Stibler H. (1989) A newly recognized inherited neurological disease with carbohydrate-deficient secretory glycoproteins. In: Wetterberg L, editor. Genetics of Neuropsychiatric Diseases. Wenner-Gren Center International Symposium Series. Vol. 51. New York: Macmillan. p 69-80.
    • (1989) Genetics of Neuropsychiatric Diseases. Wenner-Gren Center International Symposium Series , vol.51 , pp. 69-80
    • Jaeken, J.1    Stibler, H.2
  • 65
    • 0016840967 scopus 로고
    • Asymptomatic type II hyperprolinaemia associated with hyperglycinaemia in three sibs
    • Pavone L, Mollica F, Levy HL. (1997) Asymptomatic type II hyperprolinaemia associated with hyperglycinaemia in three sibs. Archives of Disease in Childhood 50: 637-41.
    • (1975) Archives of Disease in Childhood , vol.50 , pp. 637-641
    • Pavone, L.1    Mollica, F.2    Levy, H.L.3
  • 68
    • 0016757273 scopus 로고
    • Interpretation of elevated blood glycine levels in children
    • Applegarth DA, Poon S. (1975) Interpretation of elevated blood glycine levels in children. Clinica Chimica Acta 63: 49-54.
    • (1975) Clinica Chimica Acta , vol.63 , pp. 49-54
    • Applegarth, D.A.1    Poon, S.2
  • 71
    • 0019239553 scopus 로고
    • Inhibition of the glycine cleavage system: Hyperglycinemia and hyperglycinuria caused by valproic acid
    • Mortensen PB, Kolvraa S, Christensen E. (1980) Inhibition of the glycine cleavage system: hyperglycinemia and hyperglycinuria caused by valproic acid. Epilepsia 21: 563-9.
    • (1980) Epilepsia , vol.21 , pp. 563-569
    • Mortensen, P.B.1    Kolvraa, S.2    Christensen, E.3
  • 73
    • 0024253535 scopus 로고
    • Hyperamino-acidaemia and hyperammonaemia in epileptic children treated with valproic acid
    • Iinuma K, Hayasaka K, Narisawa K, Tada K, Hori K. (1988) Hyperamino-acidaemia and hyperammonaemia in epileptic children treated with valproic acid. European Journal of Pediatrics 148: 267-9.
    • (1988) European Journal of Pediatrics , vol.148 , pp. 267-269
    • Iinuma, K.1    Hayasaka, K.2    Narisawa, K.3    Tada, K.4    Hori, K.5
  • 74
    • 0018609690 scopus 로고
    • Reduction of the level of the glycine cleavage system in the rat liver resulting from administration of dipropylacetic acid: An experimental approach to hyperglycinemia
    • Kochi H, Hayasaka K, Hiraga K, Kikuchi G. (1979) Reduction of the level of the glycine cleavage system in the rat liver resulting from administration of dipropylacetic acid: an experimental approach to hyperglycinemia. Archives of Biochemistry & Biophysics 198: 589-97.
    • (1979) Archives of Biochemistry & Biophysics , vol.198 , pp. 589-597
    • Kochi, H.1    Hayasaka, K.2    Hiraga, K.3    Kikuchi, G.4
  • 75
    • 84886639423 scopus 로고
    • Effects of dipropylacetate on the glycine cleavage enzyme system and glycine levels. A possible experimental approach to non-ketotic hyperglycinemia
    • Martin-Gallardo A, Rodriguez P, Lopez M, Benavides J, Ugarte M. (1985) Effects of dipropylacetate on the glycine cleavage enzyme system and glycine levels. A possible experimental approach to non-ketotic hyperglycinemia. Biochemical Pharmacology 34: 2877-82.
    • (1985) Biochemical Pharmacology , vol.34 , pp. 2877-2882
    • Martin-Gallardo, A.1    Rodriguez, P.2    Lopez, M.3    Benavides, J.4    Ugarte, M.5
  • 77
    • 0031399011 scopus 로고    scopus 로고
    • Irrigating fluids in endoscopic surgery
    • Hahn RG. (1997) Irrigating fluids in endoscopic surgery. British Journal Urology 79: 669-80.
    • (1997) British Journal Urology , vol.79 , pp. 669-680
    • Hahn, R.G.1
  • 81
    • 0032857114 scopus 로고    scopus 로고
    • Glycine and other neurotransmitter amino acids in cerebrospinal fluid in perinatal asphyxia and neonatal hypoxic-ischaemic encephalopathy
    • Roldan A, Figueras-Aloy J, Deulofeu R, Jimenez R. (1999) Glycine and other neurotransmitter amino acids in cerebrospinal fluid in perinatal asphyxia and neonatal hypoxic-ischaemic encephalopathy. Acta Paediatrica 88: 1137-41.
    • (1999) Acta Paediatrica , vol.88 , pp. 1137-1141
    • Roldan, A.1    Figueras-Aloy, J.2    Deulofeu, R.3    Jimenez, R.4
  • 85
    • 0027528939 scopus 로고
    • Amino acid levels in the cerebrospinal fluid of newly diagnosed epileptic patients: Effect of vigabatrin and carbamazepine monotherapies
    • Kalviainen R, Halonen T, Pitkanen A, Riekkinen PJ. (1993) Amino acid levels in the cerebrospinal fluid of newly diagnosed epileptic patients: effect of vigabatrin and carbamazepine monotherapies. Journal of Neurochemistry 60: 1244-50.
    • (1993) Journal of Neurochemistry , vol.60 , pp. 1244-1250
    • Kalviainen, R.1    Halonen, T.2    Pitkanen, A.3    Riekkinen, P.J.4
  • 86
    • 0023903928 scopus 로고
    • Inhibitory and excitatory amino acids in CSF of patients suffering from complex partial seizures during chronic treatment with gamma-vinyl GABA (vigabatrin)
    • Halonen T, Lehtinen M, Pitkanen A, Ylinen A, Riekkinen PJ. (1988) Inhibitory and excitatory amino acids in CSF of patients suffering from complex partial seizures during chronic treatment with gamma-vinyl GABA (vigabatrin). Epilepsy Research 2: 246-52.
    • (1988) Epilepsy Research , vol.2 , pp. 246-252
    • Halonen, T.1    Lehtinen, M.2    Pitkanen, A.3    Ylinen, A.4    Riekkinen, P.J.5
  • 88
    • 0016613965 scopus 로고
    • CSF amino acids and plasma-CSF amino acid ratios in adults
    • Perry TL, Hansen S, Kennedy J. (1975) CSF amino acids and plasma-CSF amino acid ratios in adults. Journal of Neurochemistry 24: 587-58.
    • (1975) Journal of Neurochemistry , vol.24 , pp. 587-658
    • Perry, T.L.1    Hansen, S.2    Kennedy, J.3
  • 90
    • 0022517974 scopus 로고
    • Positive correlation between contamination by blood and amino acid levels in cerebrospinal fluid of the rat
    • Kornhuber ME, Kornhuber J, Kornhuber AW, Hartmann GM. (1986) Positive correlation between contamination by blood and amino acid levels in cerebrospinal fluid of the rat. Neuroscience Letters 69: 212-5.
    • (1986) Neuroscience Letters , vol.69 , pp. 212-215
    • Kornhuber, M.E.1    Kornhuber, J.2    Kornhuber, A.W.3    Hartmann, G.M.4
  • 91
    • 0003154749 scopus 로고    scopus 로고
    • Disorders of proline and hydroxyproline metabolism
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors; New York: McGraw-Hill
    • Phang JM, Hu CA, Valle D. (2001) Disorders of proline and hydroxyproline metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic & Molecular Bases of Inherited Disease. 8th edn. New York: McGraw-Hill. p 1821-38.
    • (2001) The Metabolic & Molecular Bases of Inherited Disease. 8th edn. , pp. 1821-1838
    • Phang, J.M.1    Hu, C.A.2    Valle, D.3
  • 92
    • 0005004081 scopus 로고    scopus 로고
    • Iminoglycinuria
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors; New York: McGraw-Hill
    • Chesney RW. (2001) Iminoglycinuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic & Molecular Bases of Inherited Disease. 8th edn. New York: McGraw-Hill. p 4971-81.
    • (2001) The Metabolic & Molecular Bases of Inherited Disease. 8th edn. , pp. 4971-4981
    • Chesney, R.W.1
  • 97
    • 0020530958 scopus 로고
    • Glycine/serine ratios in amniotic fluid: An unreliable indicator for the prenatal diagnosis of non-ketotic hyperglycinemia
    • Mesavage C, Nance CS, Flannery DB, Weiner DL, Suchy SF, Wolf B. (1983) Glycine/serine ratios in amniotic fluid: an unreliable indicator for the prenatal diagnosis of non-ketotic hyperglycinemia. Clinical Genetics 23: 354-8.
    • (1983) Clinical Genetics , vol.23 , pp. 354-358
    • Mesavage, C.1    Nance, C.S.2    Flannery, D.B.3    Weiner, D.L.4    Suchy, S.F.5    Wolf, B.6
  • 98
    • 0028041613 scopus 로고
    • Prenatal diagnosis of non-ketotic hyperglycinaemia: Experience in 50 at-risk pregnancies
    • Toone JR, Applegarth DA, Levy HL. (1994) Prenatal diagnosis of non-ketotic hyperglycinaemia: experience in 50 at-risk pregnancies. Journal of Inherited Metabolic Disease 17: 342-4.
    • (1994) Journal of Inherited Metabolic Disease , vol.17 , pp. 342-344
    • Toone, J.R.1    Applegarth, D.A.2    Levy, H.L.3
  • 99
    • 0025373350 scopus 로고
    • Prenatal diagnosis of non-ketotic hyperglycinemia: Enzymatic analysis of the glycine cleavage system in chorionic villi
    • Hayasaka K, Tada K, Fueki N, Aikawa J. (1990) Prenatal diagnosis of non-ketotic hyperglycinemia: enzymatic analysis of the glycine cleavage system in chorionic villi. Journal of Pediatrics 116: 444-5.
    • (1990) Journal of Pediatrics , vol.116 , pp. 444-445
    • Hayasaka, K.1    Tada, K.2    Fueki, N.3    Aikawa, J.4
  • 100
    • 0034097520 scopus 로고    scopus 로고
    • Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses
    • Applegarth DA, Toone JR, Rolland MO, Black SH, Yim DK, Bemis G. (2000) Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses. Prenatal Diagnosis 20: 367-70.
    • (2000) Prenatal Diagnosis , vol.20 , pp. 367-370
    • Applegarth, D.A.1    Toone, J.R.2    Rolland, M.O.3    Black, S.H.4    Yim, D.K.5    Bemis, G.6
  • 103
    • 0021331682 scopus 로고
    • Omega-aminoaciduria induced by gamma-vinyl GABA
    • Brandt NJ, Christensen E. (1984) Omega-aminoaciduria induced by gamma-vinyl GABA. Lancet 1: 450-1.
    • (1984) Lancet , vol.1 , pp. 450-451
    • Brandt, N.J.1    Christensen, E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.