메뉴 건너뛰기




Volumn 26, Issue 2, 2004, Pages 93-98

Subtle brain dysfunction in treated 6-pyruvoyl-tetrahydropterin synthase deficiency: Relationship to motor tasks and neurophysiological tests

Author keywords

6 Pyruvoyl tetrahydropterin synthase; Cortical excitability; Movement rhythm variation

Indexed keywords

6 PYRUVOYLTETRAHYDROPTERIN SYNTHASE; TETRAHYDROBIOPTERIN;

EID: 1242339737     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(03)00098-6     Document Type: Article
Times cited : (6)

References (29)
  • 1
    • 0000363403 scopus 로고    scopus 로고
    • The hyperphenylalaninaemias
    • J. Fernandes, J.M. Saudubray, & G. Van Den Berghe. Berlin: Springer
    • Smith I., Lee P. The hyperphenylalaninaemias. Fernandes J., Saudubray J.M., Van Den Berghe G. Inborn metabolic diseases. 3rd ed. 2000;171-184 Springer, Berlin.
    • (2000) Inborn Metabolic Diseases 3rd Ed. , pp. 171-184
    • Smith, I.1    Lee, P.2
  • 2
    • 0034747949 scopus 로고    scopus 로고
    • Tetrahydrobiopterin deficient hyperphenylalaninemia in the Chinese
    • Liu T.T., Chiang S.H., Wu S.J., Hsiao K.J. Tetrahydrobiopterin deficient hyperphenylalaninemia in the Chinese. Clin Chim Acta. 313:2001;157-169.
    • (2001) Clin Chim Acta , vol.313 , pp. 157-169
    • Liu, T.T.1    Chiang, S.H.2    Wu, S.J.3    Hsiao, K.J.4
  • 3
    • 0001770975 scopus 로고
    • Tetrahydrobiopterin deficient phenylketonuria detected by neonatal screening in Taiwan
    • H.C. Curtis, S. Ghisla, & N. Blau. Berlin: Walter De Gruyter
    • Hsiao K.J., Chiang S.H., Liu T.T., Chiu P.C. Tetrahydrobiopterin deficient phenylketonuria detected by neonatal screening in Taiwan. Curtis H.C., Ghisla S., Blau N. Chemistry and biology of pteridines 1989. 1990;402-407 Walter De Gruyter, Berlin.
    • (1990) Chemistry and Biology of Pteridines 1989 , pp. 402-407
    • Hsiao, K.J.1    Chiang, S.H.2    Liu, T.T.3    Chiu, P.C.4
  • 4
    • 0029962924 scopus 로고    scopus 로고
    • International database of tetrahydrobiopterin deficiencies
    • Blau N., Barnes I., Dhondt J.L. International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis. 19:1996;8-14.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 8-14
    • Blau, N.1    Barnes, I.2    Dhondt, J.L.3
  • 5
    • 0021225672 scopus 로고
    • Follow-up study of a nation-wide neonatal metabolic screening program in Japan: A collaborative study group of neonatal screening for inborn errors of metabolism in Japan
    • Tada K., Tateda H., Arashima S., Sakai K., Kitagawa T., Aoki K., et al. Follow-up study of a nation-wide neonatal metabolic screening program in Japan: a collaborative study group of neonatal screening for inborn errors of metabolism in Japan. Eur J Pediatr. 142:1984;204-207.
    • (1984) Eur J Pediatr , vol.142 , pp. 204-207
    • Tada, K.1    Tateda, H.2    Arashima, S.3    Sakai, K.4    Kitagawa, T.5    Aoki, K.6
  • 6
    • 0024497282 scopus 로고
    • On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl-tetrahydropterin synthase deficiency (BH4 deficiency)
    • Tanaka Y., Matsuo N., Tsuzaki S., Araki K., Tsuchiya Y., Niederwieser A. On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl-tetrahydropterin synthase deficiency (BH4 deficiency). Eur J Pediatr. 148:1989;450-452.
    • (1989) Eur J Pediatr , vol.148 , pp. 450-452
    • Tanaka, Y.1    Matsuo, N.2    Tsuzaki, S.3    Araki, K.4    Tsuchiya, Y.5    Niederwieser, A.6
  • 7
    • 0025860490 scopus 로고
    • Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect
    • Factor S.A., Coni R.J., Cowger M., Rosenblum E.L. Paroxysmal tremor and orofacial dyskinesia secondary to a biopterin synthesis defect. Neurology. 41:1991;930-932.
    • (1991) Neurology , vol.41 , pp. 930-932
    • Factor, S.A.1    Coni, R.J.2    Cowger, M.3    Rosenblum, E.L.4
  • 8
    • 18544406486 scopus 로고    scopus 로고
    • 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study
    • Hanihara T., Inoue K., Kawanishi C., Sugiyama N., Miyakawa T., Onishi H., et al. 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. Mov Disord. 12:1997;408-411.
    • (1997) Mov Disord , vol.12 , pp. 408-411
    • Hanihara, T.1    Inoue, K.2    Kawanishi, C.3    Sugiyama, N.4    Miyakawa, T.5    Onishi, H.6
  • 9
    • 0025848866 scopus 로고
    • Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase
    • Al Aqeel A., Ozand P.T., Gascon G., Nester M., Al Nasser M., Brismar J., et al. Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Neurology. 41:1991;730-737.
    • (1991) Neurology , vol.41 , pp. 730-737
    • Al Aqeel, A.1    Ozand, P.T.2    Gascon, G.3    Nester, M.4    Al Nasser, M.5    Brismar, J.6
  • 10
    • 0031796244 scopus 로고    scopus 로고
    • Neurological aspects of adult phenylketonuria
    • Pietz J. Neurological aspects of adult phenylketonuria. Curr Opin Neurol. 11:1998;679-688.
    • (1998) Curr Opin Neurol , vol.11 , pp. 679-688
    • Pietz, J.1
  • 11
    • 31344482657 scopus 로고    scopus 로고
    • Studies of multimodal evoked potentials in treated phenylketonuria: The pattern of vulnerability
    • Ludolph A.C., Vetter U., Ullrich K. Studies of multimodal evoked potentials in treated phenylketonuria: the pattern of vulnerability. Eur J Pediatr. 155:(Suppl):1996;S64-S68.
    • (1996) Eur J Pediatr , vol.155 , Issue.SUPPL
    • Ludolph, A.C.1    Vetter, U.2    Ullrich, K.3
  • 12
    • 0033040033 scopus 로고    scopus 로고
    • Impairment of callosal and corticospinal system function in adolescents with early-treated phenylketonuria: A transcranial magnetic stimulation study
    • Roricht S., Meyer B.U., Irlbacher K., Ludolph A.C. Impairment of callosal and corticospinal system function in adolescents with early-treated phenylketonuria: a transcranial magnetic stimulation study. J Neurol. 246:1999;21-30.
    • (1999) J Neurol , vol.246 , pp. 21-30
    • Roricht, S.1    Meyer, B.U.2    Irlbacher, K.3    Ludolph, A.C.4
  • 17
    • 0021797643 scopus 로고
    • Decreased vigilance and neurotransmitter synthesis after discontinuation of dietary treatment for phenylketonuria in adolescents
    • Lou H.C., Guttler F., Lykkelund C., Bruhn P., Niderwieser 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    Guttler, F.2    Lykkelund, C.3    Bruhn, P.4    Niderwieser, A.5
  • 18
    • 0029809096 scopus 로고    scopus 로고
    • Effects of concurrent phenylalanine levels on sustained attention and calculation speed in patients treated early for phenylketonuria
    • Schmidt E., Burgard P., Rupp A. Effects of concurrent phenylalanine levels on sustained attention and calculation speed in patients treated early for phenylketonuria. Eur J Pediatr. 155:(Suppl 1):1996;S82-S86.
    • (1996) Eur J Pediatr , vol.155 , Issue.SUPPL. 1
    • Schmidt, E.1    Burgard, P.2    Rupp, A.3
  • 19
    • 0028609668 scopus 로고
    • Review of neuropsychological functioning in treated phenylketonuria: An information processing approach
    • Waisbren S.E., Brown M.J., De Sonneville L.M.J., Levy H.L. Review of neuropsychological functioning in treated phenylketonuria: an information processing approach. Acta Paediatr. 407:(Suppl):1994;S98-S103.
    • (1994) Acta Paediatr , vol.407 , Issue.SUPPL
    • Waisbren, S.E.1    Brown, M.J.2    De Sonneville, L.M.J.3    Levy, H.L.4
  • 20
    • 0031959940 scopus 로고    scopus 로고
    • Executive function in treated phenylketonuria as measured by the one-back and two-back versions of the continuous performance test
    • Griffiths P., Campbell R., Robinson P. Executive function in treated phenylketonuria as measured by the one-back and two-back versions of the continuous performance test. J Inherit Metab Dis. 21:1998;125-135.
    • (1998) J Inherit Metab Dis , vol.21 , pp. 125-135
    • Griffiths, P.1    Campbell, R.2    Robinson, P.3
  • 21
    • 0027368041 scopus 로고
    • The influence of external timing cues upon the rhythm of voluntary movements in Parkinson's disease
    • Freeman J.S., Cody F.W., Schady W. The influence of external timing cues upon the rhythm of voluntary movements in Parkinson's disease. J Neurol Neurosurg Psychiatry. 56:1993;1078-1084.
    • (1993) J Neurol Neurosurg Psychiatry , vol.56 , pp. 1078-1084
    • Freeman, J.S.1    Cody, F.W.2    Schady, W.3
  • 22
    • 0036150496 scopus 로고    scopus 로고
    • Voluntary timing and brain function: An information processing approach
    • Wing A.M. Voluntary timing and brain function: an information processing approach. Brain Cogn. 48:2002;7-30.
    • (2002) Brain Cogn , vol.48 , pp. 7-30
    • Wing, A.M.1
  • 23
    • 0033839367 scopus 로고    scopus 로고
    • Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency
    • Shintaku H., Asada M., Sawada Y. Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency. Brain Dev. 22:(Suppl 1):2000;S118-S121.
    • (2000) Brain Dev , vol.22 , Issue.SUPPL. 1
    • Shintaku, H.1    Asada, M.2    Sawada, Y.3
  • 24
    • 0036028026 scopus 로고    scopus 로고
    • Sustained attention and inhibition of cognitive interference in treated phenylketonuria: Associations with concurrent and lifetime phenylalanine concentrations
    • Huijbregts S.C.J., De Sonneville L.M.J., Licht R., Van Spronsen F.J., Verkerk P.H., Sergeant J.A. Sustained attention and inhibition of cognitive interference in treated phenylketonuria: associations with concurrent and lifetime phenylalanine concentrations. Neuropsychologia. 40:2002;7-15.
    • (2002) Neuropsychologia , vol.40 , pp. 7-15
    • Huijbregts, S.C.J.1    De Sonneville, L.M.J.2    Licht, R.3    Van Spronsen, F.J.4    Verkerk, P.H.5    Sergeant, J.A.6
  • 25
    • 0022448037 scopus 로고
    • Neuropsychological functioning in treated phenylketonuria
    • Faust D., Libon D., Pueschel S. Neuropsychological functioning in treated phenylketonuria. Int J Psychiatry Med. 16:1986-87;169-177.
    • (1986) Int J Psychiatry Med , vol.16 , pp. 169-177
    • Faust, D.1    Libon, D.2    Pueschel, S.3
  • 27
    • 0025996817 scopus 로고
    • Parkinson's disease rigidity: Magnetic motor evoked potentials in a small hand muscle
    • Cantello R., Gianelli M., Bettucci D., Civardi C., De Angelis M.S., Mutani R. Parkinson's disease rigidity: magnetic motor evoked potentials in a small hand muscle. Neurology. 41:1991;1449-1456.
    • (1991) Neurology , vol.41 , pp. 1449-1456
    • Cantello, R.1    Gianelli, M.2    Bettucci, D.3    Civardi, C.4    De Angelis, M.S.5    Mutani, R.6
  • 28
    • 0029016960 scopus 로고
    • The relation between bradykinesia and excitability of the motor cortex assessed using transcranial magnetic stimulation in normal and parkinsonian subjects
    • Ellaway P.H., Davey N.J., Maskill D.W., Dick J.P. The relation between bradykinesia and excitability of the motor cortex assessed using transcranial magnetic stimulation in normal and parkinsonian subjects. Electroenceph clin Neurophysiol. 97:1995;169-178.
    • (1995) Electroenceph Clin Neurophysiol , vol.97 , pp. 169-178
    • Ellaway, P.H.1    Davey, N.J.2    Maskill, D.W.3    Dick, J.P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.