-
1
-
-
59349089192
-
Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis
-
Albrecht J, Garbade SF, Burgard P (2009) Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis. Neurosci Biobehav Rev 33:414-421
-
(2009)
Neurosci Biobehav Rev
, vol.33
, pp. 414-421
-
-
Albrecht, J.1
Garbade, S.F.2
Burgard, P.3
-
2
-
-
32344452948
-
The use of quantitative oculometry in the assessment of Huntington's disease
-
DOI 10.1007/s00221-005-0143-6
-
Ali FR, Michell AW, Barker RA, Carpenter RHS (2006) The use of quantitative oculometry in the assessment of Huntington's disease. Exp Brain Res 169:237-245 (Pubitemid 43221149)
-
(2006)
Experimental Brain Research
, vol.169
, Issue.2
, pp. 237-245
-
-
Ali, F.R.1
Michell, A.W.2
Barker, R.A.3
Carpenter, R.H.S.4
-
3
-
-
0033826920
-
Adult care in phenylketonuria and hyperphenylalaninaemia: The relevance of neurological abnormalities
-
Brenton DP, Pietz J (2000) Adult care in phenylketonuria and hyperphenylalaninaemia: the relevance of neurological abnormalities. Eur J Pediatr 159(Suppl 2):S114-120
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL. 2
-
-
Brenton, D.P.1
Pietz, J.2
-
4
-
-
0033827247
-
Development of intelligence in early treated phenylketonuria
-
Burgard P (2000) Development of intelligence in early treated phenylketonuria. Eur J Pediatr 159(Suppl 2):S74-79
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL. 2
-
-
Burgard, P.1
-
5
-
-
0034175872
-
The neural control of looking
-
Carpenter RH (2000) The neural control of looking. Curr Biol 10: R291-293
-
(2000)
Curr Biol
, vol.10
-
-
Carpenter, R.H.1
-
6
-
-
23944491432
-
Visual pursuit: An instructive area of cortex
-
Carpenter RHS (2005) Visual pursuit: an instructive area of cortex. Curr Biol 15:R638-640
-
(2005)
Curr Biol
, vol.15
-
-
Carpenter, R.H.S.1
-
7
-
-
0029084920
-
Neural computation of log likelihood in control of saccadic eye movements
-
Carpenter RH, Williams ML (1995) Neural computation of log likelihood in control of saccadic eye movements. Nature 377:59-62
-
(1995)
Nature
, vol.377
, pp. 59-62
-
-
Carpenter, R.H.1
Williams, M.L.2
-
9
-
-
0029095727
-
Magnetic resonance imaging in phenylketonuria: Reversal of cerebral white matter change
-
Cleary MA, Walter JH, Wraith JE, White F, Tyler K, Jenkins JP (1995) Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J Pediatr 127:251-255
-
(1995)
J Pediatr
, vol.127
, pp. 251-255
-
-
Cleary, M.A.1
Walter, J.H.2
Wraith, J.E.3
White, F.4
Tyler, K.5
Jenkins, J.P.6
-
10
-
-
72249106379
-
Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses
-
de Groot MJ, Hoeksma M, Blau N, Reijngoud DJ, van Spronsen FJ (2010) Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Mol Genet Metab 99(Suppl 1):S86-89
-
(2010)
Mol Genet Metab
, vol.99
, Issue.SUPPL. 1
-
-
De Groot, M.J.1
Hoeksma, M.2
Blau, N.3
Reijngoud, D.J.4
Van Spronsen, F.J.5
-
11
-
-
1642452976
-
Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet?
-
Gassió R, Campistol J, Vilaseca MA, Lambruschini N, Cambra FJ, Fusté E (2003) Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet? Acta Paediatr 92:1474-1478
-
(2003)
Acta Paediatr
, vol.92
, pp. 1474-1478
-
-
Gassió, R.1
Campistol, J.2
Vilaseca, M.A.3
Lambruschini, N.4
Cambra, F.J.5
Fusté, E.6
-
12
-
-
72249119031
-
Psychosocial aspects of PKU: Hidden disabilities - A review
-
Gentile JK, Ten Hoedt AE, Bosch AM (2010) Psychosocial aspects of PKU: hidden disabilities - a review. Mol Genet Metab 99(Suppl 1):S64-67
-
(2010)
Mol Genet Metab
, vol.99
, Issue.SUPPL. 1
-
-
Gentile, J.K.1
Ten Hoedt, A.E.2
Bosch, A.M.3
-
13
-
-
28444447975
-
Lifespan development of pro- and anti-saccades: Multiple regression models for point estimates
-
DOI 10.1016/j.devbrainres.2005.06.011, PII S0165380605001823
-
Klein C, Foerster F, Hartnegg K, Fischer B (2005) Lifespan development of pro- and anti-saccades: multiple regression models for point estimates. Brain Res Dev Brain Res 160:113-123 (Pubitemid 41735118)
-
(2005)
Developmental Brain Research
, vol.160
, Issue.2
, pp. 113-123
-
-
Klein, C.1
Foerster, F.2
Hartnegg, K.3
Fischer, B.4
-
14
-
-
0029977276
-
Maternal phenylketonuria: A metabolic teratogen
-
DOI 10.1002/(SICI)1096-9926(199603)53:3<176::AID-TERA5>3.0.CO;2-2
-
Levy HL, Ghavami M (1996) Maternal phenylketonuria: a metabolic teratogen. Teratology 53:176-184 (Pubitemid 26190890)
-
(1996)
Teratology
, vol.53
, Issue.3
, pp. 176-184
-
-
Levy, H.L.1
Ghavami, M.2
-
15
-
-
51749102899
-
Factors influencing outcomes in the offspring of mothers with phenylketonuria during pregnancy: The importance of variation in maternal blood phenylalanine
-
Maillot F, Lilburn M, Baudin J, Morley DW, Lee PJ (2008) Factors influencing outcomes in the offspring of mothers with phenylketonuria during pregnancy: the importance of variation in maternal blood phenylalanine. Am J Clin Nutr 88:700-705
-
(2008)
Am J Clin Nutr
, vol.88
, pp. 700-705
-
-
Maillot, F.1
Lilburn, M.2
Baudin, J.3
Morley, D.W.4
Lee, P.J.5
-
16
-
-
32344438122
-
Hand-held system for ambulatory measurement of saccadic durations of neurological patients
-
Gajda J (ed) Komitet Biocybernityki i Inzyneierii Biomedycznej PAN, Warsaw
-
Ober JK, Przedpelska-Ober E, Gryncewicz W et al (2003) Hand-held system for ambulatory measurement of saccadic durations of neurological patients. In: Gajda J (ed) Modelling and measurement in medicine. Komitet Biocybernityki i Inzyneierii Biomedycznej PAN, Warsaw, pp 187-198
-
(2003)
Modelling and Measurement in Medicine
, pp. 187-198
-
-
Ober, J.K.1
Przedpelska-Ober, E.2
Gryncewicz, W.3
-
17
-
-
34548742787
-
Saccadometry: The possible application of latency distribution measurement for monitoring concussion
-
DOI 10.1136/bjsm.2007.036731
-
Pearson BC, Armitage KR, Horner CWM, Carpenter RHS (2007) Saccadometry: the possible application of latency distribution measurement for monitoring concussion. Br J Sports Med 41:610-612 (Pubitemid 47435083)
-
(2007)
British Journal of Sports Medicine
, vol.41
, Issue.9
, pp. 610-612
-
-
Pearson, B.C.1
Armitage, K.R.2
Horner, C.W.M.3
Carpenter, R.H.S.4
-
18
-
-
0029954988
-
Phenylketonuria: Findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment
-
Pietz J, Kreis R, Schmidt H, Meyding-Lamadé UK, Rupp A, Boesch C (1996) Phenylketonuria: findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment. Radiology 201:413-420 (Pubitemid 26357636)
-
(1996)
Radiology
, vol.201
, Issue.2
, pp. 413-420
-
-
Pietz, J.1
Kreis, R.2
Schmidt, H.3
Meyding-Lamade, U.K.4
Rupp, A.5
Boesch, C.6
-
19
-
-
0033560647
-
Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria
-
Pietz J, Kreis R, Rupp A, Mayatepek E, Rating D, Boesch C, Bremer HJ (1999) Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest 103:1169-1178 (Pubitemid 29207251)
-
(1999)
Journal of Clinical Investigation
, vol.103
, Issue.8
, pp. 1169-1178
-
-
Pietz, J.1
Kreis, R.2
Rupp, A.3
Mayatepek, E.4
Rating, D.5
Boesch, C.6
Bremer, H.J.7
-
20
-
-
59749097937
-
Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency
-
Valle D, Beaudet AL, Vogelstein B (eds) online. McGraw-Hill, New York
-
Donlon J, Levy H, Scriver CR (2008) Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Valle D, Beaudet AL, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, online. McGraw-Hill, New York
-
(2008)
The Metabolic and Molecular Bases of Inherited Disease
-
-
Donlon, J.1
Levy, H.2
Scriver, C.R.3
-
21
-
-
59749105153
-
Brain dysfunction in phenylketonuria: Is phenylalanine toxicity the only possible cause?
-
van Spronsen FJ, Hoeksma M, Reijngoud D (2009) Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause? J Inherit Metab Dis 32:46-51
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 46-51
-
-
Van Spronsen, F.J.1
Hoeksma, M.2
Reijngoud, D.3
-
22
-
-
36849066914
-
Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging
-
DOI 10.1002/mrm.21422
-
Vermathen P, Robert-Tissot L, Pietz J, Lutz T, Boesch C, Kreis R (2007) Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging. Magn Reson Med 58:1145-1156 (Pubitemid 350234201)
-
(2007)
Magnetic Resonance in Medicine
, vol.58
, Issue.6
, pp. 1145-1156
-
-
Vermathen, P.1
Robert-Tissot, L.2
Pietz, J.3
Lutz, T.4
Boesch, C.5
Kreis, R.6
-
23
-
-
0037031064
-
How practical are recommendations for dietary control in phenylketonuria?
-
Walter JH, White FJ, Hall SK, MacDonald A, Rylance G, Boneh A, Francis DE, Shortland GJ, Schmidt M, Vail A (2002) How practical are recommendations for dietary control in phenylketonuria? Lancet 360:55-57
-
(2002)
Lancet
, vol.360
, pp. 55-57
-
-
Walter, J.H.1
White, F.J.2
Hall, S.K.3
MacDonald, A.4
Rylance, G.5
Boneh, A.6
Francis, D.E.7
Shortland, G.J.8
Schmidt, M.9
Vail, A.10
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