-
1
-
-
0000363403
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
13
-
-
0028948626
-
Neurological findings in early treated phenylketonuria
-
Weglage J., Pietsh M., Funders B., Koch H.G., Ullrich K. Neurological findings in early treated phenylketonuria. Acta Paediatr. 84:1995;411-415.
-
(1995)
Acta Paediatr
, vol.84
, pp. 411-415
-
-
Weglage, J.1
Pietsh, M.2
Funders, B.3
Koch, H.G.4
Ullrich, K.5
-
14
-
-
0031688522
-
Neurological outcome in adult patients with early treated phenylketonuria
-
Pietz J., Dunckelmann R., Rupp A., Rating D., Meinck H.M., Schmidt H., et al. Neurological outcome in adult patients with early treated phenylketonuria. Eur J Pediatr. 157:1998;824-830.
-
(1998)
Eur J Pediatr
, vol.157
, pp. 824-830
-
-
Pietz, J.1
Dunckelmann, R.2
Rupp, A.3
Rating, D.4
Meinck, H.M.5
Schmidt, H.6
-
17
-
-
0021797643
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
26
-
-
0029820175
-
Sustained attention in untreated non-PKU-hyperphenylalaninemia
-
Weglage J., Schmidt E., Funders B., Pietsch M., Ullrich K. Sustained attention in untreated non-PKU-hyperphenylalaninemia. J Clin Exp Neuropsycol. 18:1996;343-348.
-
(1996)
J Clin Exp Neuropsycol
, vol.18
, pp. 343-348
-
-
Weglage, J.1
Schmidt, E.2
Funders, B.3
Pietsch, M.4
Ullrich, K.5
-
27
-
-
0025996817
-
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
-
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
-
29
-
-
0021361848
-
Biopterin synthesis defect
-
McInnes R.R., Kaufman S., Warsh J.J., Van Loon G.R., Milstien S., Kapatos G., Soldin S., Walsh P., MacGregor D., Hanley W.B. Biopterin synthesis defect. J Clin Investig. 73:1984;458-469.
-
(1984)
J Clin Investig
, vol.73
, pp. 458-469
-
-
McInnes, R.R.1
Kaufman, S.2
Warsh, J.J.3
Van Loon, G.R.4
Milstien, S.5
Kapatos, G.6
Soldin, S.7
Walsh, P.8
MacGregor, D.9
Hanley, W.B.10
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