-
1
-
-
0026069139
-
Intellectual development in 12-year-old children treated for phenylketonuria
-
COI: 1:STN:280:DyaK3M%2FptVSltw%3D%3D, PID: 1985428
-
Azen CG, Koch R et al (1991) Intellectual development in 12-year-old children treated for phenylketonuria. Am J Dis Child 145(1):35–39
-
(1991)
Am J Dis Child
, vol.145
, Issue.1
, pp. 35-39
-
-
Azen, C.G.1
Koch, R.2
-
2
-
-
0019480324
-
Unsuccessful treatment of phenylketonuria with tyrosine
-
COI: 1:STN:280:DyaL3M3ktFyhsw%3D%3D, PID: 7252655
-
Batshaw ML, Valle D et al (1981) Unsuccessful treatment of phenylketonuria with tyrosine. J Pediatr 99(1):159–160
-
(1981)
J Pediatr
, vol.99
, Issue.1
, pp. 159-160
-
-
Batshaw, M.L.1
Valle, D.2
-
3
-
-
0022966985
-
Phenylalanine transport at the human blood–brain barrier. Studies with isolated human brain capillaries
-
COI: 1:CAS:528:DyaL28Xit1anu7o%3D, PID: 3700406
-
Choi TB, Pardridge WM (1986) Phenylalanine transport at the human blood–brain barrier. Studies with isolated human brain capillaries. J Biol Chem 261(14):6536–6541
-
(1986)
J Biol Chem
, vol.261
, Issue.14
, pp. 6536-6541
-
-
Choi, T.B.1
Pardridge, W.M.2
-
4
-
-
72249115976
-
Executive function in early-treated phenylketonuria: profile and underlying mechanisms
-
COI: 1:CAS:528:DC%2BD1MXhsFyntbfN, PID: 20123466
-
Christ S, Huijbregts S et al (2010) Executive function in early-treated phenylketonuria: profile and underlying mechanisms. Mol Genet Metab 99(Suppl 1):S22–S32
-
(2010)
Mol Genet Metab
, vol.99
, pp. S22-S32
-
-
Christ, S.1
Huijbregts, S.2
-
5
-
-
0038821390
-
Effects of feeding individual amino acids upon the distribution of other amino acids between cells and extracellular fluid
-
COI: 1:CAS:528:DyaH1cXhslOisw%3D%3D, PID: 18901170
-
Christensen HN, Streicher JA et al (1948) Effects of feeding individual amino acids upon the distribution of other amino acids between cells and extracellular fluid. J Biol Chem 172(2):515–524
-
(1948)
J Biol Chem
, vol.172
, Issue.2
, pp. 515-524
-
-
Christensen, H.N.1
Streicher, J.A.2
-
6
-
-
72249106379
-
Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses
-
PID: 20123477
-
De Groot MJ, Hoeksma M et al (2010) Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Mol Genet Metab 99(Suppl 1):S86–S89
-
(2010)
Mol Genet Metab
, vol.99
, pp. S86-S89
-
-
De Groot, M.J.1
Hoeksma, M.2
-
7
-
-
77955492904
-
Challenges and pitfalls in the management of phenylketonuria
-
PID: 20624808
-
Feillet F, Van Spronsen FJ et al (2010) Challenges and pitfalls in the management of phenylketonuria. Pediatrics 126(2):333–341
-
(2010)
Pediatrics
, vol.126
, Issue.2
, pp. 333-341
-
-
Feillet, F.1
Van Spronsen, F.J.2
-
8
-
-
47149088106
-
Progress toward cell-directed therapy for phenylketonuria
-
COI: 1:CAS:528:DC%2BD1cXhsVyms73E, PID: 18498375
-
Harding C (2008) Progress toward cell-directed therapy for phenylketonuria. Clin Genet 74(2):97–104
-
(2008)
Clin Genet
, vol.74
, Issue.2
, pp. 97-104
-
-
Harding, C.1
-
9
-
-
0031834511
-
Metabolic engineering as therapy for inborn errors of metabolism - development of mice with phenylalanine hydroxylase expression in muscle
-
COI: 1:CAS:528:DyaK1cXjtVehtL0%3D, PID: 9797873
-
Harding CO, Wild K et al (1998) Metabolic engineering as therapy for inborn errors of metabolism - development of mice with phenylalanine hydroxylase expression in muscle. Gene Ther 5(5):677–683
-
(1998)
Gene Ther
, vol.5
, Issue.5
, pp. 677-683
-
-
Harding, C.O.1
Wild, K.2
-
10
-
-
79960845905
-
A 3-Year randomized therapeutic trial of nitisinone in alkaptonuria
-
COI: 1:CAS:528:DC%2BC3MXpsFKjs74%3D, PID: 21620748
-
Introne WJ, Perry MB et al (2011) A 3-Year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab 103(4):307–314
-
(2011)
Mol Genet Metab
, vol.103
, Issue.4
, pp. 307-314
-
-
Introne, W.J.1
Perry, M.B.2
-
11
-
-
0032508585
-
Expression cloning and characterization of a transporter for large neutral amino acids activated by the heavy chain of 4f2 antigen (Cd98)
-
COI: 1:CAS:528:DyaK1cXmtFOktLo%3D, PID: 9726963
-
Kanai Y, Segawa H et al (1998) Expression cloning and characterization of a transporter for large neutral amino acids activated by the heavy chain of 4f2 antigen (Cd98). J Biol Chem 273(37):23629–23632
-
(1998)
J Biol Chem
, vol.273
, Issue.37
, pp. 23629-23632
-
-
Kanai, Y.1
Segawa, H.2
-
12
-
-
0025326251
-
Enhancement of dopamine release in vivo from the rat striatum by dialytic perfusion of 6r-L-erythro-5,6,7,8-tetrahydrobiopterin
-
COI: 1:CAS:528:DyaK3cXhslaqsLY%3D, PID: 1968962
-
Koshimura K, Miwa S et al (1990) Enhancement of dopamine release in vivo from the rat striatum by dialytic perfusion of 6r-L-erythro-5,6,7,8-tetrahydrobiopterin. J Neurochem 54(4):1391–1397
-
(1990)
J Neurochem
, vol.54
, Issue.4
, pp. 1391-1397
-
-
Koshimura, K.1
Miwa, S.2
-
13
-
-
0026675589
-
Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
-
COI: 1:STN:280:DyaK3s%2FitlWlsw%3D%3D, PID: 1383656
-
Lindstedt S, Holme E et al (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340(8823):813–817
-
(1992)
Lancet
, vol.340
, Issue.8823
, pp. 813-817
-
-
Lindstedt, S.1
Holme, E.2
-
14
-
-
0023225583
-
Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria
-
COI: 1:STN:280:DyaL2szit1eluw%3D%3D, PID: 2442957
-
Lou HC, Lykkelund C et al (1987) Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria. Acta Paediatr Scand 76(4):560–565
-
(1987)
Acta Paediatr Scand
, vol.76
, Issue.4
, pp. 560-565
-
-
Lou, H.C.1
Lykkelund, C.2
-
15
-
-
0024273038
-
Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine
-
COI: 1:STN:280:DyaL1M7gslaltA%3D%3D, PID: 2463918
-
Lykkelund C, Nielsen JB et al (1988) Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine. Eur J Pediatr 148(3):238–245
-
(1988)
Eur J Pediatr
, vol.148
, Issue.3
, pp. 238-245
-
-
Lykkelund, C.1
Nielsen, J.B.2
-
16
-
-
0032541636
-
Amino-acid transport by heterodimers of 4f2hc/Cd98 and members of a Permease family
-
COI: 1:CAS:528:DyaK1cXmtFejsb4%3D, PID: 9751058
-
Mastroberardino L, Spindler B et al (1998) Amino-acid transport by heterodimers of 4f2hc/Cd98 and members of a Permease family. Nature 395(6699):288–291
-
(1998)
Nature
, vol.395
, Issue.6699
, pp. 288-291
-
-
Mastroberardino, L.1
Spindler, B.2
-
17
-
-
33751029864
-
Large neutral amino acids in the treatment of phenylketonuria (Pku)
-
COI: 1:CAS:528:DC%2BD28Xht1SgurfM, PID: 16988900
-
Matalon R, Michals-Matalon K et al (2006) Large neutral amino acids in the treatment of phenylketonuria (Pku). J Inherit Metab Dis 29(6):732–738
-
(2006)
J Inherit Metab Dis
, vol.29
, Issue.6
, pp. 732-738
-
-
Matalon, R.1
Michals-Matalon, K.2
-
18
-
-
0025192948
-
Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase
-
COI: 1:CAS:528:DyaK3cXhvFKit7w%3D, PID: 2308957
-
McDonald JD, Bode VC et al (1990) Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase. Proc Natl Acad Sci U S A 87(5):1965–1967
-
(1990)
Proc Natl Acad Sci U S A
, vol.87
, Issue.5
, pp. 1965-1967
-
-
McDonald, J.D.1
Bode, V.C.2
-
19
-
-
0011054737
-
Competitive inhibition of mammalian tyrosinase by phenylalanine and its relationship to hair pigmentation in phenylketonuria
-
COI: 1:CAS:528:DyaG2sXkslChtg%3D%3D, PID: 13400136
-
Miyamoto M, Fitzpatrick T (1957) Competitive inhibition of mammalian tyrosinase by phenylalanine and its relationship to hair pigmentation in phenylketonuria. Nature 179(4552):199–200
-
(1957)
Nature
, vol.179
, Issue.4552
, pp. 199-200
-
-
Miyamoto, M.1
Fitzpatrick, T.2
-
20
-
-
33646161224
-
Prostaglandin J2 reduces Catechol-O-Methyltransferase activity and enhances dopamine toxicity in neuronal cells
-
COI: 1:CAS:528:DC%2BD28XktVyjsrs%3D, PID: 16406650
-
Ogburn KD, Bottiglieri T et al (2006) Prostaglandin J2 reduces Catechol-O-Methyltransferase activity and enhances dopamine toxicity in neuronal cells. Neurobiol Dis 22(2):294–301
-
(2006)
Neurobiol Dis
, vol.22
, Issue.2
, pp. 294-301
-
-
Ogburn, K.D.1
Bottiglieri, T.2
-
21
-
-
0037147660
-
Deficits in brain serotonin synthesis in a genetic mouse model of phenylketonuria
-
COI: 1:CAS:528:DC%2BD38Xpslartrs%3D, PID: 12499868
-
Pascucci T, Ventura R et al (2002) Deficits in brain serotonin synthesis in a genetic mouse model of phenylketonuria. Neuroreport 13(18):2561–2564
-
(2002)
Neuroreport
, vol.13
, Issue.18
, pp. 2561-2564
-
-
Pascucci, T.1
Ventura, R.2
-
22
-
-
69749104924
-
5-hydroxytryptophan rescues serotonin response to stress in prefrontal cortex of hyperphenylalaninaemic mice
-
COI: 1:CAS:528:DC%2BD1MXhtVWiurbN, PID: 19664307
-
Pascucci T, Andolina D et al (2009) 5-hydroxytryptophan rescues serotonin response to stress in prefrontal cortex of hyperphenylalaninaemic mice. Int J Neuropsychopharmacol 12(8):1067–1079
-
(2009)
Int J Neuropsychopharmacol
, vol.12
, Issue.8
, pp. 1067-1079
-
-
Pascucci, T.1
Andolina, D.2
-
23
-
-
0033560647
-
Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria
-
COI: 1:CAS:528:DyaK1MXis1Gnsbs%3D, PID: 10207169
-
Pietz J, Kreis R et al (1999) Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest 103(8):1169–1178
-
(1999)
J Clin Invest
, vol.103
, Issue.8
, pp. 1169-1178
-
-
Pietz, J.1
Kreis, R.2
-
24
-
-
0034720267
-
Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria
-
COI: 1:CAS:528:DC%2BD3cXjslSksbo%3D, PID: 10817622
-
Puglisi-Allegra S, Cabib S et al (2000) Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria. Neuroreport 11(6):1361–1364
-
(2000)
Neuroreport
, vol.11
, Issue.6
, pp. 1361-1364
-
-
Puglisi-Allegra, S.1
Cabib, S.2
-
26
-
-
0025030122
-
Neurological deterioration in young adults with phenylketonuria
-
COI: 1:STN:280:DyaK3czmtlSgsQ%3D%3D, PID: 1975386
-
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
-
27
-
-
34347340654
-
Executive functioning in children and adolescents with phenylketonuria
-
COI: 1:STN:280:DC%2BD2sznvVWmsA%3D%3D, PID: 17594394
-
Vanzutphen KH, Packman W et al (2007) Executive functioning in children and adolescents with phenylketonuria. Clin Genet 72(1):13–18
-
(2007)
Clin Genet
, vol.72
, Issue.1
, pp. 13-18
-
-
Vanzutphen, K.H.1
Packman, W.2
-
28
-
-
84877772598
-
Non-physiological amino acid (Npaa) therapy targeting brain phenylalanine reduction: pilot studies in Pahenu2 mice
-
COI: 1:CAS:528:DC%2BC3sXnsFGis7k%3D, PID: 22976763
-
Vogel KR, Arning E et al (2013) Non-physiological amino acid (Npaa) therapy targeting brain phenylalanine reduction: pilot studies in Pahenu2 mice. J Inherit Metab Dis 36(3):513–523
-
(2013)
J Inherit Metab Dis
, vol.36
, Issue.3
, pp. 513-523
-
-
Vogel, K.R.1
Arning, E.2
-
29
-
-
3142767753
-
Blood phenylalanine control in adolescents with phenylketonuria
-
PID: 15148857
-
Walter JH, White FJ (2004) Blood phenylalanine control in adolescents with phenylketonuria. Int J Adolesc Med Health 16(1):41–45
-
(2004)
Int J Adolesc Med Health
, vol.16
, Issue.1
, pp. 41-45
-
-
Walter, J.H.1
White, F.J.2
|