-
1
-
-
0025375515
-
Proton NMR observation of phenylalanine and an aromatic metabolite in the rabbit brain in vivo
-
Avison MJ, Novotony EJ, et al. 1990. Proton NMR observation of phenylalanine and an aromatic metabolite in the rabbit brain in vivo. Pediatr Res 27(6):566-570.
-
(1990)
Pediatr Res
, vol.27
, Issue.6
, pp. 566-570
-
-
Avison, M.J.1
Novotony, E.J.2
-
2
-
-
0026069139
-
Intellectual development in 12 year-old children treated for phenylketonuria
-
Azen CR, Koch R, et al. 1991. Intellectual development in 12 year-old children treated for phenylketonuria. Am J Dis Child 145:35-39.
-
(1991)
Am J Dis Child
, vol.145
, pp. 35-39
-
-
Azen, C.R.1
Koch, R.2
-
3
-
-
0025914058
-
Unexpected white matter changes in an early treated PKU case and improvement after dietary treatment
-
Battistini S, Stefano N, et al. 1991. Unexpected white matter changes in an early treated PKU case and improvement after dietary treatment. Funct Neurol 6:177-180.
-
(1991)
Funct Neurol
, vol.6
, pp. 177-180
-
-
Battistini, S.1
Stefano, N.2
-
4
-
-
0031911691
-
Dietary treatment of destructive behavior associated with hyperphenylalaninemia
-
Baumeister AA, Baumeister AA. 1998. Dietary treatment of destructive behavior associated with hyperphenylalaninemia. Clin Neuropharmacol 21(1):18-27.
-
(1998)
Clin Neuropharmacol
, vol.21
, Issue.1
, pp. 18-27
-
-
Baumeister, A.A.1
Baumeister, A.A.2
-
5
-
-
0026056827
-
Disturbed myelination in patients with treated hyperphenylalaninemia: Evaluation with magnetic resonance imaging
-
Bick U, Fahrendorf G, et al. 1991. Disturbed myelination in patients with treated hyperphenylalaninemia: evaluation with magnetic resonance imaging. Eur J Pediatr 150:185-189.
-
(1991)
Eur J Pediatr
, vol.150
, pp. 185-189
-
-
Bick, U.1
Fahrendorf, G.2
-
6
-
-
0027442717
-
White matter abnormalities in patients with treated hyperphenylalaninemia: Magnetic resonance relaxometry and proton spectroscopy findings
-
Bick U, Ullrich K, et al. 1993. White matter abnormalities in patients with treated hyperphenylalaninemia: magnetic resonance relaxometry and proton spectroscopy findings. Eur J Pediatr 12(152):1012-1020.
-
(1993)
Eur J Pediatr
, vol.12
, Issue.152
, pp. 1012-1020
-
-
Bick, U.1
Ullrich, K.2
-
8
-
-
0025168446
-
Malignant hyperphenylalaninemia: CT and MR of the brain
-
Brismar J, Aqeel A, et al. 1990. Malignant hyperphenylalaninemia: CT and MR of the brain. Am J Neuroradiol 11(1):135-138.
-
(1990)
Am J Neuroradiol
, vol.11
, Issue.1
, pp. 135-138
-
-
Brismar, J.1
Aqeel, A.2
-
9
-
-
0029095727
-
Magnetic resonance imaging in phenylketonuria: Reversal of cerebral white matter change
-
Cleary MA, Walter JH, et al. 1995. Magnetic resonance imaging in phenylketonuria: Reversal of cerebral white matter change. J Pediatr 127:251-275.
-
(1995)
J Pediatr
, vol.127
, pp. 251-275
-
-
Cleary, M.A.1
Walter, J.H.2
-
10
-
-
0028298895
-
Magnetic resonance imaging of the brain in phenylketonuria
-
Cleary MA, Wraith JE, et al. 1994. Magnetic resonance imaging of the brain in phenylketonuria. Lancet 344:87-90.
-
(1994)
Lancet
, vol.344
, pp. 87-90
-
-
Cleary, M.A.1
Wraith, J.E.2
-
11
-
-
0032231461
-
A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
-
Guldberg P, Rey F, Zschocke J, et al. 1998. A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 63:71-79.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 71-79
-
-
Guldberg, P.1
Rey, F.2
Zschocke, J.3
-
12
-
-
0019212423
-
Hyperphenylalaninemia: Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood
-
Guttler F. 1980. Hyperphenylalaninemia: Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr Scand 280:1-80.
-
(1980)
Acta Paediatr Scand
, vol.280
, pp. 1-80
-
-
Guttler, F.1
-
13
-
-
85085673121
-
Proton in vivo spectroscopy of patients with hyperphenylalanaemia
-
Hajek M et al. 1993. Proton in vivo spectroscopy of patients with Hyperphenylalanaemia. Neuropediatrics 24(2):111-112.
-
(1993)
Neuropediatrics
, vol.24
, Issue.2
, pp. 111-112
-
-
Hajek, M.1
-
14
-
-
0022609047
-
Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria
-
Holtzman NA, Doorninck WV, et al. 1986. Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria. N Engl J Med 314:593-608.
-
(1986)
N Engl J Med
, vol.314
, pp. 593-608
-
-
Holtzman, N.A.1
Doorninck, W.V.2
-
15
-
-
0027929412
-
Localized brain proton NMR spectroscopy in young adult phenylketonuria patients
-
Johannik K, Francois B, et al. 1994. Localized brain proton NMR spectroscopy in young adult phenylketonuria patients. Magnetic Resonance in Medicine 31:53-57.
-
(1994)
Magnetic Resonance in Medicine
, vol.31
, pp. 53-57
-
-
Johannik, K.1
Francois, B.2
-
16
-
-
0029124950
-
Visual evoked potentials in phenylketonuria: Association with brain MRI, dietary state, and IQ
-
Jones SJ, Turano G, et al. 1995. Visual evoked potentials in phenylketonuria: Association with brain MRI, dietary state, and IQ. J Neurol Neurosurg Psychiatry 3(59):260-265.
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.3
, Issue.59
, pp. 260-265
-
-
Jones, S.J.1
Turano, G.2
-
17
-
-
0023065241
-
Phenylketonuria
-
Koch R, Wenz E. 1987. Phenylketonuria. Ann Rev Nutr 7:117-135.
-
(1987)
Ann Rev Nutr
, vol.7
, pp. 117-135
-
-
Koch, R.1
Wenz, E.2
-
18
-
-
0028021734
-
Near-microscopic magnetic resonance imaging of the brains of phenylalanine hydroxylase-deficient mice normal littermates, and of BALB/c mice at 9.4 tesla
-
Kornguth S, Anderson M, et al. 1994. Near-microscopic magnetic resonance imaging of the brains of phenylalanine hydroxylase-deficient mice normal littermates, and of BALB/c mice at 9.4 tesla. Neuroimage 1(3):220-229.
-
(1994)
Neuroimage
, vol.1
, Issue.3
, pp. 220-229
-
-
Kornguth, S.1
Anderson, M.2
-
19
-
-
0029314334
-
1H magnetic-resonance spectroscopy
-
1H magnetic-resonance spectroscopy. J Mag Res Ser B 107:242-251.
-
(1995)
J Mag Res Ser B
, vol.107
, pp. 242-251
-
-
Kries, R.1
Pietz, J.2
-
21
-
-
0028824019
-
Biochemical, clinical, and neuroradiological (MRI) correlations in late detected PKU patients
-
Leuzzi V, Transimeni G, et al. 1995. Biochemical, clinical, and neuroradiological (MRI) correlations in late detected PKU patients. J Inherit Metab Dis 18(5):624-634.
-
(1995)
J Inherit Metab Dis
, vol.18
, Issue.5
, pp. 624-634
-
-
Leuzzi, V.1
Transimeni, G.2
-
22
-
-
0026661691
-
An occipito-temporal syndrome in adolescents with optimally controlled hyperphenylalaninemia
-
Lou HC, Toft PB, et al. 1992. An occipito-temporal syndrome in adolescents with optimally controlled hyperphenylalaninemia. J Inherit Metab Dis 15(5):687-695.
-
(1992)
J Inherit Metab Dis
, vol.15
, Issue.5
, pp. 687-695
-
-
Lou, H.C.1
Toft, P.B.2
-
23
-
-
0029130812
-
In-vivo NMR spectroscopy in patients with phenylketonuria: Change of cerebral phenylalanine levels under dietary treatment
-
Moller JE, Ullrich K, et al. 1995. In-vivo NMR spectroscopy in patients with phenylketonuria: Change of cerebral phenylalanine levels under dietary treatment. Neuropediatr 26:199-202.
-
(1995)
Neuropediatr
, vol.26
, pp. 199-202
-
-
Moller, J.E.1
Ullrich, K.2
-
24
-
-
0025064540
-
Phenylketonuria: MR imaging of the brain with clinical correlation
-
Pearson KD, Gean-Marton AD, et al. 1990. Phenylketonuria: MR imaging of the brain with clinical correlation. Radiology 177:437-440.
-
(1990)
Radiology
, vol.177
, pp. 437-440
-
-
Pearson, K.D.1
Gean-Marton, A.D.2
-
25
-
-
0029954988
-
Phenylketonuria: Findings at MR imaging and localized in vivo H-1MR spectroscopy of the brain in patients with early treatment
-
Pietz J, Kreis R, et al. 1996b. Phenylketonuria: Findings at MR imaging and localized in vivo H-1MR spectroscopy of the brain in patients with early treatment. Radiology 201(2):413-420.
-
(1996)
Radiology
, vol.201
, Issue.2
, pp. 413-420
-
-
Pietz, J.1
Kreis, R.2
-
26
-
-
31344482665
-
Magnetic resonance imaging of the brain in adolescents with PKU and in one case of 6-pyruvoyl tetrahydropteridine synthasc deficiency
-
Pietz J, Meyding-Lamade UK, et al. 1996a. Magnetic resonance imaging of the brain in adolescents with PKU and in one case of 6-pyruvoyl tetrahydropteridine synthasc deficiency. Eur J Pediatr 155(Supplement 1):S69-S73.
-
(1996)
Eur J Pediatr
, vol.155
, Issue.SUPPL. 1
-
-
Pietz, J.1
Meyding-Lamade, U.K.2
-
27
-
-
0025732302
-
MR imaging of phenylketonuria
-
Shaw DWW, Maravilla KR, et al. 1991. MR imaging of phenylketonuria. AJNR 12:403-406.
-
(1991)
AJNR
, vol.12
, pp. 403-406
-
-
Shaw, D.W.W.1
Maravilla, K.R.2
-
29
-
-
0028706946
-
Treatment of phenylalanine hydroxylase deficiency
-
Smith I. 1994. Treatment of phenylalanine hydroxylase deficiency. Acta Paediatr Suppl 407:60-65.
-
(1994)
Acta Paediatr Suppl
, vol.407
, pp. 60-65
-
-
Smith, I.1
-
30
-
-
0025346883
-
Intelligence and quality of dietary treatment in phenylketonuria
-
Smith I, Beasley MG, et al. 1990. Intelligence and quality of dietary treatment in phenylketonuria. Arch Dis Child 65:472-478.
-
(1990)
Arch Dis Child
, vol.65
, pp. 472-478
-
-
Smith, I.1
Beasley, M.G.2
-
31
-
-
0025030122
-
Neurological deterioration in young adults with phenylketonuria
-
Thompson AJ, Smith I, et al. 1990. Neurological deterioration in young adults with phenylketonuria. Lancet 336:602-605.
-
(1990)
Lancet
, vol.336
, pp. 602-605
-
-
Thompson, A.J.1
Smith, I.2
-
32
-
-
0025853937
-
Magnetic-resonance imaging changes in early treated patients with phenylketonuria
-
Thompson AJ, Smith I, et al. 1991. Magnetic-resonance imaging changes in early treated patients with phenylketonuria. (letter) Lancet 337(8751):1224.
-
(1991)
Lancet
, vol.337
, Issue.8751
, pp. 1224
-
-
Thompson, A.J.1
Smith, I.2
-
33
-
-
0027254260
-
Brain MRI changes in phenylketonuria: Associations with dietary status
-
Thompson AJ, Tillotson S, et al. 1993. Brain MRI changes in phenylketonuria: Associations with dietary status. Brain 116:811-821.
-
(1993)
Brain
, vol.116
, pp. 811-821
-
-
Thompson, A.J.1
Tillotson, S.2
-
34
-
-
0027934619
-
Brain magnetic resonance imaging in children with optimally controlled hyperphenylalaninemia
-
Toft PB, Lou H, et al. 1994. Brain magnetic resonance imaging in children with optimally controlled hyperphenylalaninemia. J Inher Metab Dis 17:575-583.
-
(1994)
J Inher Metab Dis
, vol.17
, pp. 575-583
-
-
Toft, P.B.1
Lou, H.2
-
35
-
-
0345309991
-
Phenylketonuria (PKU): Brain magnetic resonance (MR) findings
-
Abstract
-
Toma P. 1991. Phenylketonuria (PKU): Brain magnetic resonance (MR) findings. Neuropediatrics 22:174 (Abstract).
-
(1991)
Neuropediatrics
, vol.22
, pp. 174
-
-
Toma, P.1
-
36
-
-
0028696544
-
White matter abnormalities in phenylketonuria: Results of magnetic resonance measurements
-
Ullrich K, Moller H, et al. 1994b. White matter abnormalities in phenylketonuria: Results of magnetic resonance measurements. Acta Paediatr Suppl 407:78-82.
-
(1994)
Acta Paediatr Suppl
, vol.407
, pp. 78-82
-
-
Ullrich, K.1
Moller, H.2
-
37
-
-
0028130701
-
Cranial MRI in PKU: Evaluation of a critical threshold for blood phenylalanine
-
Ullrich K, Weglage J, et al. 1994a. Cranial MRI in PKU: Evaluation of a critical threshold for blood phenylalanine. Neuropediatrics 25(5): 278-279.
-
(1994)
Neuropediatrics
, vol.25
, Issue.5
, pp. 278-279
-
-
Ullrich, K.1
Weglage, J.2
-
38
-
-
0024833743
-
Neurological deterioration in adult phenylketonuria
-
Villasana D, Butler I, et al. 1989. Neurological deterioration in adult phenylketonuria. J Inherit Metab Dis 12(4):451-457.
-
(1989)
J Inherit Metab Dis
, vol.12
, Issue.4
, pp. 451-457
-
-
Villasana, D.1
Butler, I.2
-
39
-
-
0027282275
-
Biochemical control, genetic analysis and magnetic resonance imaging in patients with phenylketonuria
-
Walter JH, Tyfield LA, et al. 1993. Biochemical control, genetic analysis and magnetic resonance imaging in patients with phenylketonuria. Eur J Pediatr 152(10):822-827.
-
(1993)
Eur J Pediatr
, vol.152
, Issue.10
, pp. 822-827
-
-
Walter, J.H.1
Tyfield, L.A.2
-
40
-
-
0030772772
-
Progression of cerebral white matter abnormalities in early treated patients with phenylketonuria during adolescence
-
Weglage J, Bick U, et al. 1997b. Progression of cerebral white matter abnormalities in early treated patients with phenylketonuria during adolescence. Neuropediatrics 28:239-240.
-
(1997)
Neuropediatrics
, vol.28
, pp. 239-240
-
-
Weglage, J.1
Bick, U.2
-
41
-
-
0031975526
-
In vivo NMR spectroscopy in patients with phenylketonuria: Clinical significance of interindividual differences in brain phenylalanine concentrations
-
Weglage J, Moller JE, et al. 1998. In vivo NMR spectroscopy in patients with phenylketonuria: Clinical significance of interindividual differences in brain phenylalanine concentrations. J Inher Metab Dis 21:81-82.
-
(1998)
J Inher Metab Dis
, vol.21
, pp. 81-82
-
-
Weglage, J.1
Moller, J.E.2
-
42
-
-
0030744695
-
Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German collaborative study on phenylketonuria
-
Weglage J, Ullrich K, et al. 1997a. Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German collaborative study on phenylketonuria. Pediatr Res 42(3):378-384.
-
(1997)
Pediatr Res
, vol.42
, Issue.3
, pp. 378-384
-
-
Weglage, J.1
Ullrich, K.2
|