-
1
-
-
0000134296
-
The hyperphenylalaninemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Scriver CR, Kaufman S, Eisensmith RC, Woo SLS. The hyperphenylalaninemia. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 1995. p. 1015-75.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1015-1075
-
-
Scriver, C.R.1
Kaufman, S.2
Eisensmith, R.C.3
Woo, S.L.S.4
-
2
-
-
0035100372
-
Phenylketonuria: Tyrosine beyond the phenylalanine-restricted diet
-
Van Spronsen FJ, Smit PGA, Koch R. Phenylketonuria: tyrosine beyond the phenylalanine-restricted diet. J Inherit Metab Dis 2001; 24: 1-4.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 1-4
-
-
Van Spronsen, F.J.1
Smit, P.G.A.2
Koch, R.3
-
3
-
-
0027531564
-
Controlled diet in phenylketonuria may cause serum carnitine deficiency
-
Vilaseca MA, Briones P, Ferrer I, Campistol J, Riverola A, Castillo P, et al. Controlled diet in phenylketonuria may cause serum carnitine deficiency. J Inherit Metab Dis 1993; 13: 101-4.
-
(1993)
J Inherit Metab Dis
, vol.13
, pp. 101-104
-
-
Vilaseca, M.A.1
Briones, P.2
Ferrer, I.3
Campistol, J.4
Riverola, A.5
Castillo, P.6
-
4
-
-
0033835283
-
Nutrition, physical growth, and bone density in treated phenylketonuria
-
Przyrembel H, Bremer HJ. Nutrition, physical growth, and bone density in treated phenylketonuria. Eur J Pediatr 2000; 159: 129-35.
-
(2000)
Eur J Pediatr
, vol.159
, pp. 129-135
-
-
Przyrembel, H.1
Bremer, H.J.2
-
5
-
-
10444289946
-
Hiperfenilalaninemias
-
Sanjunjo P, Baldellou A, eds. Madrid: Ergon
-
Campistol J, Lambruschini N, Vilaseca MA, Cambra FJ, Fusté E, Gómez L. Hiperfenilalaninemias. In Sanjunjo P, Baldellou A, eds. Diagnóstico y tratamiento de las enfermedades metabólicas hereditarias. Madrid: Ergon; 2001. p. 195-206.
-
(2001)
Diagnóstico y Tratamiento de las Enfermedades Metabólicas Hereditarias
, pp. 195-206
-
-
Campistol, J.1
Lambruschini, N.2
Vilaseca, M.A.3
Cambra, F.J.4
Fusté, E.5
Gómez, L.6
-
6
-
-
0023764405
-
Effects of diet discontinuation and dietary tryptophan supplementation on neurotransmitter metabolism in phenylketonuria
-
Nielsen JB, Lou HC, Güttler F. Effects of diet discontinuation and dietary tryptophan supplementation on neurotransmitter metabolism in phenylketonuria. Brain Dysfunction 1988; 1: 51-6.
-
(1988)
Brain Dysfunction
, vol.1
, pp. 51-56
-
-
Nielsen, J.B.1
Lou, H.C.2
Güttler, F.3
-
7
-
-
0025346883
-
Intelligence and quality of dietary treatment in phenylketonuria
-
Smith I, Beasley MG, Ades AE. Intelligence and quality of dietary treatment in phenylketonuria. Arch Dis Child 1990; 65: 472-8.
-
(1990)
Arch Dis Child
, vol.65
, pp. 472-478
-
-
Smith, I.1
Beasley, M.G.2
Ades, A.E.3
-
8
-
-
0033450732
-
Management of phenylketonuria for optimal outcome: A review of guidelines for phenylketonuria management and a report of surveys of parents, patients and clinic directors
-
Wappner R, Cho S, Kronmal RA, Schuett V, Seashore MR. Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients and clinic directors. Pediatrics 1999; 104: 68.
-
(1999)
Pediatrics
, vol.104
, pp. 68
-
-
Wappner, R.1
Cho, S.2
Kronmal, R.A.3
Schuett, V.4
Seashore, M.R.5
-
9
-
-
0033827010
-
The neurochemistry of phenylketonuria
-
Surtees R, Blau N. The neurochemistry of phenylketonuria. Eur J Pediatr 2000; 159 (Suppl 2): S109-13.
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL. 2
-
-
Surtees, R.1
Blau, N.2
-
10
-
-
0031898769
-
Blood-brain barrier carrier mediated transport and brain metabolism of amino acids
-
Pardridge WM. Blood-brain barrier carrier mediated transport and brain metabolism of amino acids. Neurochem Res 1998; 23: 635-44.
-
(1998)
Neurochem Res
, vol.23
, pp. 635-644
-
-
Pardridge, W.M.1
-
11
-
-
0034120708
-
Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment
-
Burlina AB, Bonafé L, Ferrari V, Suppiej A, Zacchello F, Burlina AP. Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment. J Inherit Metab Dis 2000; 23: 313-6.
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 313-316
-
-
Burlina, A.B.1
Bonafé, L.2
Ferrari, V.3
Suppiej, A.4
Zacchello, F.5
Burlina, A.P.6
-
12
-
-
0034720267
-
Dramatic brain aminergic déficit in a genetic mouse model of phenylketonuria
-
Puglisi-Allegra S, Cabib S, Pascucci T, Ventura R, Calì F, Romano V. Dramatic brain aminergic déficit in a genetic mouse model of phenylketonuria. Neurochemistry 2000; 11: 1361-4.
-
(2000)
Neurochemistry
, vol.11
, pp. 1361-1364
-
-
Puglisi-Allegra, S.1
Cabib, S.2
Pascucci, T.3
Ventura, R.4
Calì, F.5
Romano, V.6
-
13
-
-
0029786263
-
Nutrition studies in treated infants and children with phenylketonuria: Vitamins, minerals, trace elements
-
Acosta PB. Nutrition studies in treated infants and children with phenylketonuria: vitamins, minerals, trace elements. Eur J Pediatr 1996; 155: 136-9.
-
(1996)
Eur J Pediatr
, vol.155
, pp. 136-139
-
-
Acosta, P.B.1
-
14
-
-
0037165736
-
Experimental hyperphenylalaninemia provokes oxidative stress in rat brain
-
Kinzle-Hagen ME, Pederzolli CD, Sgaravatti AM, Bridi R, Wajner M, Wannmacher CMD, et al. Experimental hyperphenylalaninemia provokes oxidative stress in rat brain. Biochim Biophys Acta 2002; 1586: 344-52.
-
(2002)
Biochim Biophys Acta
, vol.1586
, pp. 344-352
-
-
Kinzle-Hagen, M.E.1
Pederzolli, C.D.2
Sgaravatti, A.M.3
Bridi, R.4
Wajner, M.5
Wannmacher, C.M.D.6
-
15
-
-
72949115531
-
Catecholamines in the central nervous system: Overview
-
Grace AA, Gerfen CR, Aston-Jones G. Catecholamines in the central nervous system: overview. Adv Pharmacol 1998; 42: 655.
-
(1998)
Adv Pharmacol
, vol.42
, pp. 655
-
-
Grace, A.A.1
Gerfen, C.R.2
Aston-Jones, G.3
-
16
-
-
0344222932
-
Regulatory properties of pterin dependent hydroxylases: Variation on a theme
-
Usdin E, Weiner N, Youdim MBH, eds. New-York: Macmillan
-
Kaufman S. Regulatory properties of pterin dependent hydroxylases: variation on a theme. In Usdin E, Weiner N, Youdim MBH, eds. Function and regulation of monoamine enzymes. New-York: Macmillan; 1981. p. 165.
-
(1981)
Function and Regulation of Monoamine Enzymes
, pp. 165
-
-
Kaufman, S.1
-
17
-
-
0023225583
-
Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria
-
Lou HC, Lykkelund C, Verdes AM, Udesen H, Bruhn P. Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria. Acta Paediatr Scand 1987; 76: 560-5.
-
(1987)
Acta Paediatr Scand
, vol.76
, pp. 560-565
-
-
Lou, H.C.1
Lykkelund, C.2
Verdes, A.M.3
Udesen, H.4
Bruhn, P.5
-
18
-
-
0037941238
-
Large neutral amino acid therapy and phenylketonuria: A promising approach to treatment
-
Koch R, Moseley KD, Yano S, Nelson M, Moats RA. Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment. Mol Genet Metab 2003; 79: 110-3.
-
(2003)
Mol Genet Metab
, vol.79
, pp. 110-113
-
-
Koch, R.1
Moseley, K.D.2
Yano, S.3
Nelson, M.4
Moats, R.A.5
-
20
-
-
0029439509
-
Oxidative stress: The paradox of aerobic life
-
Rice-Evans C, Halliwell B, Lunt GG, ed. London: Portland Press
-
Davies KJA. Oxidative stress: the paradox of aerobic life. In Rice-Evans C, Halliwell B, Lunt GG, ed. Free radicals and oxidative stress: environment, drugs and food additives. London: Portland Press; 1995. p. 1-32.
-
(1995)
Free Radicals and Oxidative Stress: Environment, Drugs and Food Additives
, pp. 1-32
-
-
Davies, K.J.A.1
-
21
-
-
0035726073
-
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency
-
Gabsi S, Gouider-Khouja N, Belal S, Fki M, Kefi M, Turki I, et al. Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol 2001; 8: 477-81.
-
(2001)
Eur J Neurol
, vol.8
, pp. 477-481
-
-
Gabsi, S.1
Gouider-Khouja, N.2
Belal, S.3
Fki, M.4
Kefi, M.5
Turki, I.6
-
22
-
-
0034679140
-
Errores congénitos del metabolismo: ¿Causa de estrés oxidativo?
-
Colomé C, Sierra C, Vilaseca MA. Errores congénitos del metabolismo: ¿causa de estrés oxidativo? Med Clin (Barc) 2000; 115: 111-7.
-
(2000)
Med Clin (Barc)
, vol.115
, pp. 111-117
-
-
Colomé, C.1
Sierra, C.2
Vilaseca, M.A.3
-
23
-
-
0029832681
-
Selenium status in infants and children with phenylketonuria and in maternal phenylketonuria
-
Lombeck I, Jochum F, Terwolbeck K. Selenium status in infants and children with phenylketonuria and in maternal phenylketonuria. Eur J Pediatr 1996; 155: 140-4.
-
(1996)
Eur J Pediatr
, vol.155
, pp. 140-144
-
-
Lombeck, I.1
Jochum, F.2
Terwolbeck, K.3
-
24
-
-
0031865839
-
Antioxidant status in hyperphenylalaninemia
-
Sierra C, Vilaseca MA, Moyano D, Brandi N, Campistol J, Lambruschini N, et al. Antioxidant status in hyperphenylalaninemia. Clin Chim Acta 1998; 276: 1-9.
-
(1998)
Clin Chim Acta
, vol.276
, pp. 1-9
-
-
Sierra, C.1
Vilaseca, M.A.2
Moyano, D.3
Brandi, N.4
Campistol, J.5
Lambruschini, N.6
-
25
-
-
0032743087
-
Decreased serum ubiquinone-10 concentration in phenylketonuria
-
Artuch R, Vilaseca MA, Moreno J, Lambruschini N, Cambra FJ, Campistol J. Decreased serum ubiquinone-10 concentration in phenylketonuria. Am J Clin Nutr 1999; 70: 892-5.
-
(1999)
Am J Clin Nutr
, 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
-
26
-
-
0036218974
-
Ubiquinone-10 content in lymphocytes of phenylketonuric patients
-
Colomé C, Artuch R, Vilaseca MA, Sierra C, Brandi N, Cambra FJ, et al. Ubiquinone-10 content in lymphocytes of phenylketonuric patients. Clin Biochem 2002; 35: 81-4.
-
(2002)
Clin Biochem
, vol.35
, pp. 81-84
-
-
Colomé, C.1
Artuch, R.2
Vilaseca, M.A.3
Sierra, C.4
Brandi, N.5
Cambra, F.J.6
-
27
-
-
0029042393
-
Biochemical, physiological and medical aspects of ubiquinone function
-
Ernster L, Dallner G. Biochemical, physiological and medical aspects of ubiquinone function. Biochim Biophys Acta 1995; 1271: 195-204.
-
(1995)
Biochim Biophys Acta
, vol.1271
, pp. 195-204
-
-
Ernster, L.1
Dallner, G.2
-
28
-
-
0034918034
-
Plasma phenylalanine is associated with decreased serum ubiquinone-10 concentrations in phenylketonuria
-
Artuch R, Colomé C, Vilaseca MA, Sierra C, Cambra FJ, Lambruschini N, et al. Plasma phenylalanine is associated with decreased serum ubiquinone-10 concentrations in phenylketonuria. J Inherit Metab Dis 2001; 24: 359-66.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 359-366
-
-
Artuch, R.1
Colomé, C.2
Vilaseca, M.A.3
Sierra, C.4
Cambra, F.J.5
Lambruschini, N.6
-
29
-
-
0023898126
-
Inhibition of brain and liver 3-hydroxy-3-methylglutaril coenzime A and mevalonate-5-pyrophosphate decarboxilase in experimental hyperphenylalaninemia
-
Castillo M, Zafra MF, García-Peregrin E. Inhibition of brain and liver 3-hydroxy-3-methylglutaril coenzime A and mevalonate-5-pyrophosphate decarboxilase in experimental hyperphenylalaninemia. Neurochem Res 1988; 13: 551-5.
-
(1988)
Neurochem Res
, vol.13
, pp. 551-555
-
-
Castillo, M.1
Zafra, M.F.2
García-Peregrin, E.3
-
30
-
-
0037214159
-
Lipophilic antioxidants in phenylketonuric patients
-
Colomé C, Artuch R, Vilaseca MA, Sierra C, Brandi N, Cambra FJ, et al. Lipophilic antioxidants in phenylketonuric patients. Am J Clin Nutr 2003; 77: 185-8.
-
(2003)
Am J Clin Nutr
, vol.77
, pp. 185-188
-
-
Colomé, C.1
Artuch, R.2
Vilaseca, M.A.3
Sierra, C.4
Brandi, N.5
Cambra, F.J.6
-
31
-
-
1242269949
-
A longitudinal study of antioxidant status in phenylketonuric patients
-
Artuch R, Colomé C, Sierra C, Brandi N, Lambruschini N, Campistol J, et al. A longitudinal study of antioxidant status in phenylketonuric patients. Clin Biochem 2004; 37: 198-203.
-
(2004)
Clin Biochem
, vol.37
, pp. 198-203
-
-
Artuch, R.1
Colomé, C.2
Sierra, C.3
Brandi, N.4
Lambruschini, N.5
Campistol, J.6
-
32
-
-
0346059414
-
New approaches to treat PKU: How far are we?
-
Blau N, Scriver CR. New approaches to treat PKU: how far are we? Mol Genet Metab 2004; 81: 1-2.
-
(2004)
Mol Genet Metab
, vol.81
, pp. 1-2
-
-
Blau, N.1
Scriver, C.R.2
-
33
-
-
0000138089
-
Disorders of tetrahydrobiopterin and relates biogenic amines
-
Scriver C, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Blau N, Thöny B, Cotton R, Hyland K. Disorders of tetrahydrobiopterin and relates biogenic amines. In Scriver C, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 1725-76.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1725-1776
-
-
Blau, N.1
Thöny, B.2
Cotton, R.3
Hyland, K.4
-
34
-
-
0037387768
-
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency
-
Lindner M, Steinfeld R, Burgard P, Schulze A, Mayatepek E, Zschocke J. Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency. Hum Mutat 2003; 21: 400.
-
(2003)
Hum Mutat
, vol.21
, pp. 400
-
-
Lindner, M.1
Steinfeld, R.2
Burgard, P.3
Schulze, A.4
Mayatepek, E.5
Zschocke, J.6
-
35
-
-
0037331447
-
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art
-
Spaapen LJM, Rubio-Gozalbo ME. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art. Mol Genet Metab 2003; 78: 93-9.
-
(2003)
Mol Genet Metab
, vol.78
, pp. 93-99
-
-
Spaapen, L.J.M.1
Rubio-Gozalbo, M.E.2
-
36
-
-
0033504353
-
Tetrahydrobipoterin-responsive phenylalanine hydroxylase deficiency
-
Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, et al. Tetrahydrobipoterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 1999; 135: 375-8.
-
(1999)
J Pediatr
, vol.135
, pp. 375-378
-
-
Kure, S.1
Hou, D.C.2
Ohura, T.3
Iwamoto, H.4
Suzuki, S.5
Sugiyama, N.6
|