-
1
-
-
0000059155
-
The hyperphenylalaninemias
-
Scriver R.C., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Scriver C.R., Kaufman S., Eisensmith R.C., and Woo S.L.C. The hyperphenylalaninemias. In: Scriver R.C., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Basis of Inherited Disease. 7th ed. (1998), McGraw-Hill, New York 1015-1075
-
(1998)
The Metabolic and Molecular Basis of Inherited Disease. 7th ed.
, pp. 1015-1075
-
-
Scriver, C.R.1
Kaufman, S.2
Eisensmith, R.C.3
Woo, S.L.C.4
-
2
-
-
0021180767
-
Paired comparisons between early treated PKU children and their matched sibling controls on intelligence and school achievement test results at eight years of age
-
Koch R., Azen C., Friedman E.G., and Williamson M.L. Paired comparisons between early treated PKU children and their matched sibling controls on intelligence and school achievement test results at eight years of age. J Inher Metab Dis 7 (1984) 86-90
-
(1984)
J Inher Metab Dis
, vol.7
, pp. 86-90
-
-
Koch, R.1
Azen, C.2
Friedman, E.G.3
Williamson, M.L.4
-
3
-
-
31344482675
-
Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria
-
Burgard P., Schmidt E., Rupp A., Schneider W., and Bremer H.J. Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 155 suppl 1 (1996) S33-S38
-
(1996)
Eur J Pediatr
, vol.155
, Issue.SUPPL. 1
-
-
Burgard, P.1
Schmidt, E.2
Rupp, A.3
Schneider, W.4
Bremer, H.J.5
-
4
-
-
0033806348
-
Behaviour and school achievement in patients with early and continuously treated phenylketonuria
-
Stemerdink B.A., Kalverboer A.F., van der Meere J.J., van der Molen M.W., Huisman J., de Jong L.W.A., et al. Behaviour and school achievement in patients with early and continuously treated phenylketonuria. J Inher Metab Dis 23 (2000) 548-562
-
(2000)
J Inher Metab Dis
, vol.23
, pp. 548-562
-
-
Stemerdink, B.A.1
Kalverboer, A.F.2
van der Meere, J.J.3
van der Molen, M.W.4
Huisman, J.5
de Jong, L.W.A.6
-
5
-
-
0029809096
-
Effects of concurrent phenylalanine levels on sustained attention and calculation speed in patients treated early for phenylketonuria
-
Schmidt E., Burgard P., and 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
-
6
-
-
0031018037
-
Neuropsychologic functions of early treated patients with phenylketonuria, on and off diet: results of a cross-national and cross-sectional study
-
Burgard P., Rey F., Rupp A., Abadie V., and Rey J. Neuropsychologic functions of early treated patients with phenylketonuria, on and off diet: results of a cross-national and cross-sectional study. Pediatr Res 41 (1997) 368-374
-
(1997)
Pediatr Res
, vol.41
, pp. 368-374
-
-
Burgard, P.1
Rey, F.2
Rupp, A.3
Abadie, V.4
Rey, J.5
-
7
-
-
0023926724
-
Long-term development of intelligence (IQ) and EEG in 34 children with phenylketonuria treated early
-
Pietz J., Benninger C., Schmidt H., Scheffner D., and Bickel H. Long-term development of intelligence (IQ) and EEG in 34 children with phenylketonuria treated early. Eur J Pediatr 147 (1988) 361-367
-
(1988)
Eur J Pediatr
, vol.147
, pp. 361-367
-
-
Pietz, J.1
Benninger, C.2
Schmidt, H.3
Scheffner, D.4
Bickel, H.5
-
8
-
-
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
-
9
-
-
0031862013
-
Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria
-
Arnold G.L., Kramer B.M., Kirby R.S., Plumeau P.B., Blakely E.M., Sanger Cregan L.S., et al. Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria. Acta Paediatrica 87 (1998) 565-570
-
(1998)
Acta Paediatrica
, vol.87
, pp. 565-570
-
-
Arnold, G.L.1
Kramer, B.M.2
Kirby, R.S.3
Plumeau, P.B.4
Blakely, E.M.5
Sanger Cregan, L.S.6
-
10
-
-
0019940403
-
Zinc status and growth of children undergoing treatment for phenylketonuria
-
Acosta P.B., Fernhoff P.M., Warshaw H.S., Elsas L.J., Hambidge K.M., Ernest A., et al. Zinc status and growth of children undergoing treatment for phenylketonuria. J Inher Metab Dis 5 (1982) 107-110
-
(1982)
J Inher Metab Dis
, vol.5
, pp. 107-110
-
-
Acosta, P.B.1
Fernhoff, P.M.2
Warshaw, H.S.3
Elsas, L.J.4
Hambidge, K.M.5
Ernest, A.6
-
11
-
-
0023920456
-
Trace element status of children with PKU and normal children
-
Gropper S.S., Acosta P.B., Clarke-Sheehan N., Wenz E., Cheng M., and Koch R. Trace element status of children with PKU and normal children. J Am Dietetic Association 88 (1988) 459-465
-
(1988)
J Am Dietetic Association
, vol.88
, pp. 459-465
-
-
Gropper, S.S.1
Acosta, P.B.2
Clarke-Sheehan, N.3
Wenz, E.4
Cheng, M.5
Koch, R.6
-
12
-
-
0027393294
-
Low iron stores in infants and children with treated phenylketonuria: a population at risk for iron-deficiency, anemia and associated cognitive deficits
-
Bodley J.L., Austin V.J., Hanley W.B., Clarke J.T., and Zlotkin S. Low iron stores in infants and children with treated phenylketonuria: a population at risk for iron-deficiency, anemia and associated cognitive deficits. Eur J Pediatr 152 (1993) 140-143
-
(1993)
Eur J Pediatr
, vol.152
, pp. 140-143
-
-
Bodley, J.L.1
Austin, V.J.2
Hanley, W.B.3
Clarke, J.T.4
Zlotkin, S.5
-
13
-
-
0032743087
-
Decreased serum ubiquinone-10 concentrations in phenylketonuria
-
Artuch R., Vilaseca M.A., Moreno J., Lambruschini N., Cambra F.J., and Campistol J. Decreased serum ubiquinone-10 concentrations in phenylketonuria. Am J Clin Nutrition 70 (1999) 892-895
-
(1999)
Am J Clin Nutrition
, vol.70
, pp. 892-895
-
-
Artuch, R.1
Vilaseca, M.A.2
Moreno, J.3
Lambruschini, N.4
Cambra, F.J.5
Campistol, J.6
-
14
-
-
0025940476
-
Reduced plasma C-20 and C-22 polyunsaturated fatty acids in children with phenylketonuria during dietary intervention
-
Galli C., Agostoni C., Mosconi C., Riva E., Salari P.C., and Giovannini M. Reduced plasma C-20 and C-22 polyunsaturated fatty acids in children with phenylketonuria during dietary intervention. J Pediatr 119 (1991) 562-567
-
(1991)
J Pediatr
, vol.119
, pp. 562-567
-
-
Galli, C.1
Agostoni, C.2
Mosconi, C.3
Riva, E.4
Salari, P.C.5
Giovannini, M.6
-
15
-
-
0031850932
-
Long-chain polyunsaturated fatty acids in plasma and erythrocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake
-
Poge A.P., Baumann K., Muller E., Leichsenring M., Schmidt H., and Bremer H.J. Long-chain polyunsaturated fatty acids in plasma and erythrocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake. J Inher Metab Dis 21 (1998) 373-381
-
(1998)
J Inher Metab Dis
, vol.21
, pp. 373-381
-
-
Poge, A.P.1
Baumann, K.2
Muller, E.3
Leichsenring, M.4
Schmidt, H.5
Bremer, H.J.6
-
16
-
-
0022445141
-
Biochemical and functional effects of prenatal and postnatal omega 3 fatty acid deficiency on retina and brain in rhesus monkeys
-
Neuringer M., Connor W.E., Lin D.S., Barstad L., and Luck S. Biochemical and functional effects of prenatal and postnatal omega 3 fatty acid deficiency on retina and brain in rhesus monkeys. Proc Natl Acad Sci USA 83 (1986) 4021-4025
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 4021-4025
-
-
Neuringer, M.1
Connor, W.E.2
Lin, D.S.3
Barstad, L.4
Luck, S.5
-
17
-
-
0027976596
-
Home cage behavior of rhesus monkeys with long-term deficiency of omega-3 fatty acids
-
Reisbick S., Neuringer M., Hasnain R., and Connor W.E. Home cage behavior of rhesus monkeys with long-term deficiency of omega-3 fatty acids. Physiol Behav 55 (1994) 231-239
-
(1994)
Physiol Behav
, vol.55
, pp. 231-239
-
-
Reisbick, S.1
Neuringer, M.2
Hasnain, R.3
Connor, W.E.4
-
18
-
-
0031871394
-
Visual acuity and the essentiality of docosahexaenoic acid and arachidonic acid in the diet of term infants
-
Birch E.E., Hoffman D.R., Uauy R., Birch D.G., and Prestidge C. Visual acuity and the essentiality of docosahexaenoic acid and arachidonic acid in the diet of term infants. Pediatr Res 44 (1998) 201-209
-
(1998)
Pediatr Res
, vol.44
, pp. 201-209
-
-
Birch, E.E.1
Hoffman, D.R.2
Uauy, R.3
Birch, D.G.4
Prestidge, C.5
-
19
-
-
0001338119
-
Role of long-chain polyunsaturated in early human neurodevelopment
-
Decsi T., and Koletzko B. Role of long-chain polyunsaturated in early human neurodevelopment. Nutrition Neurosci 3 (2000) 293-306
-
(2000)
Nutrition Neurosci
, vol.3
, pp. 293-306
-
-
Decsi, T.1
Koletzko, B.2
-
20
-
-
0033954768
-
Infant vision and retinal function in studies of dietary long-chain polyunsaturated fatty acids: methods, results, and implications
-
Neuringer M. Infant vision and retinal function in studies of dietary long-chain polyunsaturated fatty acids: methods, results, and implications. Am J Clin Nutrition 71 (2000) 256S-267S
-
(2000)
Am J Clin Nutrition
, vol.71
-
-
Neuringer, M.1
-
21
-
-
0035940618
-
Fish oil supplementation improves visual evoked potentials in children with phenylketonuria
-
Beblo S., Reinhardt H., Muntau A.C., Mueller-Felber W., Roscher A.A., and Koletzko B. Fish oil supplementation improves visual evoked potentials in children with phenylketonuria. Neurology 57 (2001) 1488-1491
-
(2001)
Neurology
, vol.57
, pp. 1488-1491
-
-
Beblo, S.1
Reinhardt, H.2
Muntau, A.C.3
Mueller-Felber, W.4
Roscher, A.A.5
Koletzko, B.6
-
22
-
-
34247140433
-
Deutsche Gesellschaft für Ernährung
-
Umschau Baus, Franfurt/Main
-
Deutsche Gesellschaft für Ernährung. Ernährungsbericht 1996 (1996), Umschau Baus, Franfurt/Main
-
(1996)
Ernährungsbericht 1996
-
-
-
23
-
-
34247116734
-
-
Sektion Psychologie der Humboldt-Universität, Psychodiagnostisches Zentrum Berlin
-
Kurth E. Motometrische Rostock-Oseretzky-Skala (1985), Sektion Psychologie der Humboldt-Universität, Psychodiagnostisches Zentrum Berlin
-
(1985)
Motometrische Rostock-Oseretzky-Skala
-
-
Kurth, E.1
-
24
-
-
0028361560
-
Fatty acid composition of plasma lipid classes in healthy subjects from birth to young adulthood
-
Decsi T., and Koletzko B. Fatty acid composition of plasma lipid classes in healthy subjects from birth to young adulthood. Eur J Pediatr 153 (1994) 520-525
-
(1994)
Eur J Pediatr
, vol.153
, pp. 520-525
-
-
Decsi, T.1
Koletzko, B.2
-
25
-
-
0017153824
-
The development of motor control in the rhesus monkey: evidence concerning the role of corticomotoneuronal connections
-
Lawrence D.G., and Hopkins D.A. The development of motor control in the rhesus monkey: evidence concerning the role of corticomotoneuronal connections. Brain 99 (1976) 235-254
-
(1976)
Brain
, vol.99
, pp. 235-254
-
-
Lawrence, D.G.1
Hopkins, D.A.2
-
26
-
-
0025733845
-
Development of human precision grip. I: basic coordination of force
-
Forssberg H., Eliasson A.C., Kinoshita H., Johansson R.S., and Westling G. Development of human precision grip. I: basic coordination of force. Exp Brain Res 85 (1991) 451-457
-
(1991)
Exp Brain Res
, vol.85
, pp. 451-457
-
-
Forssberg, H.1
Eliasson, A.C.2
Kinoshita, H.3
Johansson, R.S.4
Westling, G.5
-
27
-
-
0031694201
-
Development of prehension movements in children: a kinematic study
-
Kuhtz-Buschbeck J.P., Stolze H., Johnk K., Boczek-Funcke A., and Illert M. Development of prehension movements in children: a kinematic study. Exp Brain Res 122 (1998) 424-432
-
(1998)
Exp Brain Res
, vol.122
, pp. 424-432
-
-
Kuhtz-Buschbeck, J.P.1
Stolze, H.2
Johnk, K.3
Boczek-Funcke, A.4
Illert, M.5
-
28
-
-
4644265213
-
Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review
-
Brumm V.L., Azen C., Moats R.A., Stern A.M., Broomand C., Nelson M.D., and Koch R. Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review. J Inherit Metab Dis 27 (2004) 549-566
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 549-566
-
-
Brumm, V.L.1
Azen, C.2
Moats, R.A.3
Stern, A.M.4
Broomand, C.5
Nelson, M.D.6
Koch, R.7
-
29
-
-
0031709454
-
Growth, development and differentiation: a functional food science approach
-
Koletzko B., Aggett P.J., Bindels J.G., Bung P., Ferre P., Gil A., et al. Growth, development and differentiation: a functional food science approach. Brit J Nutrition 80 suppl 1 (1998) S5-S45
-
(1998)
Brit J Nutrition
, vol.80
, Issue.SUPPL. 1
-
-
Koletzko, B.1
Aggett, P.J.2
Bindels, J.G.3
Bung, P.4
Ferre, P.5
Gil, A.6
-
30
-
-
0031773487
-
Fatty acid composition of human brain phospholipids during normal development
-
Martinez M., and Mougan I. Fatty acid composition of human brain phospholipids during normal development. J Neurochem 71 (1998) 2528-2533
-
(1998)
J Neurochem
, vol.71
, pp. 2528-2533
-
-
Martinez, M.1
Mougan, I.2
-
31
-
-
0031795524
-
The use of stable isotope techniques for nutritional and metabolic research in paediatrics
-
Koletzko B., Demmelmair H., Hartl W., Kindermann A., Koletzko S., Sauerwald T., et al. The use of stable isotope techniques for nutritional and metabolic research in paediatrics. Early Hum Dev 53 suppl (1998) S77-S97
-
(1998)
Early Hum Dev
, vol.53
, Issue.SUPPL
-
-
Koletzko, B.1
Demmelmair, H.2
Hartl, W.3
Kindermann, A.4
Koletzko, S.5
Sauerwald, T.6
-
32
-
-
0030992436
-
Docosahexaenoic acid and the development and function of the infant retina
-
Heird W.C., Prager T.C., and Anderson R.E. Docosahexaenoic acid and the development and function of the infant retina. Curr Opin Lipidol 8 (1997) 12-16
-
(1997)
Curr Opin Lipidol
, vol.8
, pp. 12-16
-
-
Heird, W.C.1
Prager, T.C.2
Anderson, R.E.3
-
33
-
-
0026468949
-
First year growth of preterm infants fed standard compared to marine oil n-3 supplemented formula
-
Carlson S.E., Cooke R.J., Werkman S.H., and Tolley E.A. First year growth of preterm infants fed standard compared to marine oil n-3 supplemented formula. Lipids 27 (1992) 901-907
-
(1992)
Lipids
, vol.27
, pp. 901-907
-
-
Carlson, S.E.1
Cooke, R.J.2
Werkman, S.H.3
Tolley, E.A.4
-
34
-
-
0034098652
-
A randomized controlled trial of early dietary supply of long-chain polyunsaturated fatty acids and mental development in term infants
-
Birch E.E., Garfield S., Hoffman D.R., Uauy R., and Birch D.G. A randomized controlled trial of early dietary supply of long-chain polyunsaturated fatty acids and mental development in term infants. Deve Med Child Neurol 42 (2000) 174-181
-
(2000)
Deve Med Child Neurol
, vol.42
, pp. 174-181
-
-
Birch, E.E.1
Garfield, S.2
Hoffman, D.R.3
Uauy, R.4
Birch, D.G.5
-
35
-
-
0026056827
-
Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging
-
Bick U., Fahrendorf G., Ludolph A.C., Vassallo P., Weglage J., and Ullrich K. Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging. Eur J Pediatr 150 (1991) 185-189
-
(1991)
Eur J Pediatr
, vol.150
, pp. 185-189
-
-
Bick, U.1
Fahrendorf, G.2
Ludolph, A.C.3
Vassallo, P.4
Weglage, J.5
Ullrich, K.6
-
36
-
-
0027442717
-
White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings
-
Bick U., Ullrich K., Stober U., Moller H., Schuierer G., Ludolph A.C., et al. White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings. Eur J Pediatr 152 (1993) 1012-1020
-
(1993)
Eur J Pediatr
, vol.152
, pp. 1012-1020
-
-
Bick, U.1
Ullrich, K.2
Stober, U.3
Moller, H.4
Schuierer, G.5
Ludolph, A.C.6
-
37
-
-
0027364663
-
Different degrees of white matter abnormalities in untreated phenylketonurics: findings in magnetic resonance imaging
-
Weglage J., Schuierer G., Kurlemann G., Bick R., and Ullrich K. Different degrees of white matter abnormalities in untreated phenylketonurics: findings in magnetic resonance imaging. J Inher Metab Dis 16 (1993) 1047-1048
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 1047-1048
-
-
Weglage, J.1
Schuierer, G.2
Kurlemann, G.3
Bick, R.4
Ullrich, K.5
-
38
-
-
0030772772
-
Progression of cerebral white matter abnormalities in early treated patients with phenylketonuria during adolescence
-
Weglage J., Bick U., Schuierer G., Pietsch M., Sprinz A., Zass R., et al. Progression of cerebral white matter abnormalities in early treated patients with phenylketonuria during adolescence. Neuropediatrics 28 (1997) 239-240
-
(1997)
Neuropediatrics
, vol.28
, pp. 239-240
-
-
Weglage, J.1
Bick, U.2
Schuierer, G.3
Pietsch, M.4
Sprinz, A.5
Zass, R.6
-
39
-
-
31344482657
-
Studies of multimodal evoked potentials in treated phenylketonuria: the pattern of vulnerability
-
Ludolph A.C., Vetter U., and Ullrich K. Studies of multimodal evoked potentials in treated phenylketonuria: the pattern of vulnerability. Eur J Pediatr 155 suppl 1 (1996) S64-S68
-
(1996)
Eur J Pediatr
, vol.155
, Issue.SUPPL. 1
-
-
Ludolph, A.C.1
Vetter, U.2
Ullrich, K.3
-
40
-
-
0029809093
-
Effect of L-dopa on visual evoked potentials and neuropsychological tests in adult phenylketonuria patients
-
Ullrich K., Weglage J., Oberwittler C., Pietsch M., Funders B., von Eckardstein H., et al. Effect of L-dopa on visual evoked potentials and neuropsychological tests in adult phenylketonuria patients. Eur J Pediatr 155 suppl 1 (1996) S74-S77
-
(1996)
Eur J Pediatr
, vol.155
, Issue.SUPPL. 1
-
-
Ullrich, K.1
Weglage, J.2
Oberwittler, C.3
Pietsch, M.4
Funders, B.5
von Eckardstein, H.6
-
41
-
-
0033765096
-
Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia
-
Agostoni C., Massetto N., Biasucci G., Rottoli A., Bonvissuto M., Bruzzese M.G., et al. Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia. J Pediatr 137 (2000) 504-509
-
(2000)
J Pediatr
, vol.137
, pp. 504-509
-
-
Agostoni, C.1
Massetto, N.2
Biasucci, G.3
Rottoli, A.4
Bonvissuto, M.5
Bruzzese, M.G.6
-
42
-
-
0031869030
-
MRI evidence that docosahexaenoic acid ethyl ester improves myelination in generalized peroxisomal disorders
-
Martinez M., and Vazquez E. MRI evidence that docosahexaenoic acid ethyl ester improves myelination in generalized peroxisomal disorders. Neurology 51 (1998) 26-32
-
(1998)
Neurology
, vol.51
, pp. 26-32
-
-
Martinez, M.1
Vazquez, E.2
|