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Volumn 81, Issue SUPPL., 2004, Pages 58-62

Cognitive outcome in urea cycle disorders

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; ENZYME INHIBITOR; GLUTAMINE; METHIONINE SULFOXIMINE; N METHYL DEXTRO ASPARTIC ACID RECEPTOR BLOCKING AGENT; QUINOLINIC ACID;

EID: 1642547106     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2003.11.016     Document Type: Article
Times cited : (92)

References (46)
  • 2
    • 0017155049 scopus 로고
    • X-chromosome inactivation in human liver: Confirmation of X-linkage of ornithine transcarbamylase
    • Ricciuti F., Gelehrter T.D., Rosenberg L.E. X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase. Am. J. Hum. Genet. 28:1976;332-338.
    • (1976) Am. J. Hum. Genet. , vol.28 , pp. 332-338
    • Ricciuti, F.1    Gelehrter, T.D.2    Rosenberg, L.E.3
  • 3
    • 0021685476 scopus 로고
    • Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus
    • Lindgren V., Martinville B., Horwich A.L., Rosenberg L.E., Francke U. Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science. 226:1984;698-700.
    • (1984) Science , vol.226 , pp. 698-700
    • Lindgren, V.1    Martinville, B.2    Horwich, A.L.3    Rosenberg, L.E.4    Francke, U.5
  • 4
    • 0029690198 scopus 로고    scopus 로고
    • Urea cycle disorders: Diagnosis, pathophysiology and therapy
    • Brusilow S.W., Maestri N.E. Urea cycle disorders: diagnosis, pathophysiology and therapy. Adv. Pediatr. 43:1996;127-170.
    • (1996) Adv. Pediatr. , vol.43 , pp. 127-170
    • Brusilow, S.W.1    Maestri, N.E.2
  • 5
    • 0033506343 scopus 로고    scopus 로고
    • Neonatal onset ornithine transcarbamylase deficiency
    • Maestri N.E., Clissold D.M.A., Brusilow S. Neonatal onset ornithine transcarbamylase deficiency. J. Pediatr. 134:1999;268-272.
    • (1999) J. Pediatr. , vol.134 , pp. 268-272
    • Maestri, N.E.1    Clissold, D.M.A.2    Brusilow, S.3
  • 7
    • 0031926212 scopus 로고    scopus 로고
    • Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan
    • Uchino T., Endo F., Matsuda I. Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. J. Inherit. Metab. Dis. 21:1998;151-159.
    • (1998) J. Inherit. Metab. Dis. , vol.21 , pp. 151-159
    • Uchino, T.1    Endo, F.2    Matsuda, I.3
  • 8
    • 0037944015 scopus 로고    scopus 로고
    • Outcome and survival of 88 patients with urea cycle disorders: A retrospective evaluation
    • Bachmann C. Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur. J. Pediatr. 162:2003;410-416.
    • (2003) Eur. J. Pediatr. , vol.162 , pp. 410-416
    • Bachmann, C.1
  • 9
    • 0022642207 scopus 로고
    • The risk of serious illness in carriers of ornithine transcarbamylase deficiency
    • Batshaw M.L., Msall M., Trojak J. The risk of serious illness in carriers of ornithine transcarbamylase deficiency. J. Pediatr. 108:1986;236-241.
    • (1986) J. Pediatr. , vol.108 , pp. 236-241
    • Batshaw, M.L.1    Msall, M.2    Trojak, J.3
  • 10
    • 0023750171 scopus 로고
    • Cognitive development in Children with inborn errors of urea synthesis
    • Msall M., Monahan P.S., Chapanis N., Batshaw M.L. Cognitive development in Children with inborn errors of urea synthesis. Acta Paediatr. Jpn. 30:1988;435-441.
    • (1988) Acta Paediatr. Jpn. , vol.30 , pp. 435-441
    • Msall, M.1    Monahan, P.S.2    Chapanis, N.3    Batshaw, M.L.4
  • 12
    • 0018903701 scopus 로고
    • Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency
    • Batshaw M.L., Roan Y., Jung A.L., Rosenberg L.A., Brusilow S.W. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency. N. Engl. J. Med. 302:1980;482-485.
    • (1980) N. Engl. J. Med. , vol.302 , pp. 482-485
    • Batshaw, M.L.1    Roan, Y.2    Jung, A.L.3    Rosenberg, L.A.4    Brusilow, S.W.5
  • 13
    • 0347949709 scopus 로고    scopus 로고
    • Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency
    • Gyato K., Wray J., Huang C.J., Yudkoff M., Batshaw M.L. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann. Neurol. 55:2004;80-86.
    • (2004) Ann. Neurol. , vol.55 , pp. 80-86
    • Gyato, K.1    Wray, J.2    Huang, C.J.3    Yudkoff, M.4    Batshaw, M.L.5
  • 14
    • 0031879678 scopus 로고    scopus 로고
    • Effects of hyperammonaemia on brain function
    • Butterworth R.F. Effects of hyperammonaemia on brain function. J. Inherit. Metab. Dis. 21(Suppl. 1):1998;6-20.
    • (1998) J. Inherit. Metab. Dis. , vol.21 , Issue.SUPPL. 1 , pp. 6-20
    • Butterworth, R.F.1
  • 16
    • 0036373262 scopus 로고    scopus 로고
    • Mechanisms of hyperammonemia
    • Bachmann C. Mechanisms of hyperammonemia. Clin. Chem. Lab. Med. 40:2002;653-662.
    • (2002) Clin. Chem. Lab. Med. , vol.40 , pp. 653-662
    • Bachmann, C.1
  • 18
    • 0027498888 scopus 로고
    • Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency
    • Connelly A., Cross J.H., Gadian D.G., Hunter J.V., Kirkham F.J., Leonard J.V. Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency. Pediatr. Res. 33:1993;77-81.
    • (1993) Pediatr. Res. , vol.33 , pp. 77-81
    • Connelly, A.1    Cross, J.H.2    Gadian, D.G.3    Hunter, J.V.4    Kirkham, F.J.5    Leonard, J.V.6
  • 19
    • 0342960821 scopus 로고    scopus 로고
    • Localized proton MR spectroscopy in infants with urea cycle defect
    • Choi C.G., Yoo H.W. Localized proton MR spectroscopy in infants with urea cycle defect. Am. J. Neuroradiol. 22:2001;834-837.
    • (2001) Am. J. Neuroradiol. , vol.22 , pp. 834-837
    • Choi, C.G.1    Yoo, H.W.2
  • 20
    • 0021235972 scopus 로고
    • Increase of tryptophan and 5-hydroxyindole acetic acid in the brain of ornithine carbamoyltransferase deficient sparse-fur mice
    • Bachmann C., Colombo J.P. Increase of tryptophan and 5-hydroxyindole acetic acid in the brain of ornithine carbamoyltransferase deficient sparse-fur mice. Pediatr. Res. 18:1984;372-375.
    • (1984) Pediatr. Res. , vol.18 , pp. 372-375
    • Bachmann, C.1    Colombo, J.P.2
  • 23
    • 0022458486 scopus 로고
    • Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria
    • Hyman S.L., Parke J.C., Porter C., Thomas G.H., Jankel W., Batshaw M.L. Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria. J. Pediatr. 108:1986;705-709.
    • (1986) J. Pediatr. , vol.108 , pp. 705-709
    • Hyman, S.L.1    Parke, J.C.2    Porter, C.3    Thomas, G.H.4    Jankel, W.5    Batshaw, M.L.6
  • 24
    • 0023616487 scopus 로고
    • Behavior management of feeding disturbances in urea cycle and organic acid disorders
    • Hyman S.L., Porter C.A., Page T.J., Iwata B.A., Kissel R., Batshaw M.L. Behavior management of feeding disturbances in urea cycle and organic acid disorders. J. Pediatr. 111:1987;558-562.
    • (1987) J. Pediatr. , vol.111 , pp. 558-562
    • Hyman, S.L.1    Porter, C.A.2    Page, T.J.3    Iwata, B.A.4    Kissel, R.5    Batshaw, M.L.6
  • 25
    • 0028983811 scopus 로고
    • Loss of [3H]MK801 binding sites in brain in congenital ornithine transcarbamylase deficiency
    • Ratnakumari L., Qureshi I.A., Butterworth R.F. Loss of [3H]MK801 binding sites in brain in congenital ornithine transcarbamylase deficiency. Metab. Brain Dis. 10:1995;249-255.
    • (1995) Metab. Brain Dis. , vol.10 , pp. 249-255
    • Ratnakumari, L.1    Qureshi, I.A.2    Butterworth, R.F.3
  • 26
    • 0033919510 scopus 로고    scopus 로고
    • Evidence for forebrain cholinergic neuronal loss in congenital ornithine transcarbamylase deficiency
    • Butterworth R.F. Evidence for forebrain cholinergic neuronal loss in congenital ornithine transcarbamylase deficiency. Metab. Brain Dis. 15:2000;83-91.
    • (2000) Metab. Brain Dis. , vol.15 , pp. 83-91
    • Butterworth, R.F.1
  • 28
    • 0023709248 scopus 로고
    • Late onset ornithine carbomyl transferase deficiency in males
    • Drogari E., Leonard J.V. Late onset ornithine carbomyl transferase deficiency in males. Arch. Dis. Child. 63:1988;1363-1367.
    • (1988) Arch. Dis. Child. , vol.63 , pp. 1363-1367
    • Drogari, E.1    Leonard, J.V.2
  • 30
    • 0030864157 scopus 로고    scopus 로고
    • Ornithine transcarbamylase deficiency: Pathogenesis of the cerebral disorder and new prospects for therapy
    • Michalak A., Butterworth R.F. Ornithine transcarbamylase deficiency: pathogenesis of the cerebral disorder and new prospects for therapy. Metab. Brain Dis. 12:1997;171-182.
    • (1997) Metab. Brain Dis. , vol.12 , pp. 171-182
    • Michalak, A.1    Butterworth, R.F.2
  • 31
    • 0022619794 scopus 로고
    • Ornithine transcarbamylase deficiency: Neuropathologic changes in acquired in utero
    • Filloux F., Townsend J.J., Leonard C. Ornithine transcarbamylase deficiency: neuropathologic changes in acquired in utero. J. Pediatr. 108:1986;942-945.
    • (1986) J. Pediatr. , vol.108 , pp. 942-945
    • Filloux, F.1    Townsend, J.J.2    Leonard, C.3
  • 33
    • 0020662172 scopus 로고
    • Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency
    • Kendall B.E., Kingsley D.P., Leonard J.V., Lingam S., Oberholzer V.G. Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency. J. Neurol. Neurosurg. Psychiatry. 46:1983;28-34.
    • (1983) J. Neurol. Neurosurg. Psychiatry , vol.46 , pp. 28-34
    • Kendall, B.E.1    Kingsley, D.P.2    Leonard, J.V.3    Lingam, S.4    Oberholzer, V.G.5
  • 34
    • 0021278998 scopus 로고
    • A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain
    • Takayanagi M., Ohtake A., Ogura N., Nakajima H., Hoshino M. A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain. Brain Dev. 6:1984;58-60.
    • (1984) Brain Dev. , vol.6 , pp. 58-60
    • Takayanagi, M.1    Ohtake, A.2    Ogura, N.3    Nakajima, H.4    Hoshino, M.5
  • 35
    • 0027464868 scopus 로고
    • Ornithine transcarbamylase deficiency presenting with strokelike episodes
    • Christodoulou J., Qureshi A., McInnes R.R., Clarke J.T.R. Ornithine transcarbamylase deficiency presenting with strokelike episodes. J. Pediatr. 122:1993;423-425.
    • (1993) J. Pediatr. , vol.122 , pp. 423-425
    • Christodoulou, J.1    Qureshi, A.2    McInnes, R.R.3    Clarke, J.T.R.4
  • 40
    • 0022652866 scopus 로고
    • Natural history of symptomatic partial ornithine transcarbamylase deficiency
    • Rowe P.C., Newman S.L., Brusilow S.W. Natural history of symptomatic partial ornithine transcarbamylase deficiency. N. Engl. J. Med. 314:1986;541-547.
    • (1986) N. Engl. J. Med. , vol.314 , pp. 541-547
    • Rowe, P.C.1    Newman, S.L.2    Brusilow, S.W.3
  • 41
    • 0030471581 scopus 로고    scopus 로고
    • Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation
    • Ahrens M.J., Berry S.A., Whitley C.B., Markowitz D.J., Plante R.J., Tuchman M. Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation. Am. J. Med. Genet. 66:1996;311-315.
    • (1996) Am. J. Med. Genet. , vol.66 , pp. 311-315
    • Ahrens, M.J.1    Berry, S.A.2    Whitley, C.B.3    Markowitz, D.J.4    Plante, R.J.5    Tuchman, M.6
  • 42
    • 0025296601 scopus 로고
    • Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus
    • Arn P.H., Hauser E.R., Thomas G.H., Herman G., Hess D., Brusilow S.W. Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. N. Engl. J. Med. 322:1990;1652-1655.
    • (1990) N. Engl. J. Med. , vol.322 , pp. 1652-1655
    • Arn, P.H.1    Hauser, E.R.2    Thomas, G.H.3    Herman, G.4    Hess, D.5    Brusilow, S.W.6
  • 43
    • 0029786498 scopus 로고    scopus 로고
    • Long-term treatment of girls with ornithine transcarbamylase deficiency
    • Maestri N.E., Brusilow S.W., Clissold D.B., Bassett S.S. Long-term treatment of girls with ornithine transcarbamylase deficiency. N. Engl. J. Med. 335:1996;855-859.
    • (1996) N. Engl. J. Med. , vol.335 , pp. 855-859
    • Maestri, N.E.1    Brusilow, S.W.2    Clissold, D.B.3    Bassett, S.S.4
  • 44
    • 0031646276 scopus 로고    scopus 로고
    • The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency
    • Maestri N.E., Lord C., Glynn M., Bale A., Brusilow S.W. The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency. Medicine. 77:1998;389-397.
    • (1998) Medicine , vol.77 , pp. 389-397
    • Maestri, N.E.1    Lord, C.2    Glynn, M.3    Bale, A.4    Brusilow, S.W.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.