-
1
-
-
50449135748
-
Influence of phenylalanine intake on phenylketonuria
-
H. Bickel, J. Gerrard, and E.M. Hickmans Influence of phenylalanine intake on phenylketonuria Lancet 265 1953 812 813
-
(1953)
Lancet
, vol.265
, pp. 812-813
-
-
Bickel, H.1
Gerrard, J.2
Hickmans, E.M.3
-
2
-
-
77957237994
-
Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence
-
G.M. Enns, R. Koch, and V. Brumm Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence Mol Genet Metab 101 2010 99 109
-
(2010)
Mol Genet Metab
, vol.101
, pp. 99-109
-
-
Enns, G.M.1
Koch, R.2
Brumm, V.3
-
4
-
-
0033504353
-
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
S. Kure, D.C. Hou, and T. Ohura Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency J Pediatr 135 1999 375 378 (Pubitemid 30180515)
-
(1999)
Journal of Pediatrics
, vol.135
, Issue.3
, pp. 375-378
-
-
Kure, S.1
Hou, D.-C.2
Ohura, T.3
Iwamoto, H.4
Suzuki, S.5
Sugiyama, N.6
Sakamoto, O.7
Fujii, K.8
Matsubara, Y.9
Narisawa, K.10
-
5
-
-
0012263946
-
Tetrahydrobiopterin deficiencies in hyperphenylalaninemia
-
H. Bickel, U. Wachtel, Georg Thieme Stuttgart
-
A. Niederwieser, and H.C. Curtius Tetrahydrobiopterin deficiencies in hyperphenylalaninemia H. Bickel, U. Wachtel, Inherited diseases of amino acid metabolism 1985 Georg Thieme Stuttgart 104 121
-
(1985)
Inherited Diseases of Amino Acid Metabolism
, pp. 104-121
-
-
Niederwieser, A.1
Curtius, H.C.2
-
6
-
-
0025951945
-
Tetrahydrobiopterin loading test in hyperphenylalaninemia
-
A. Ponzone, O. Guardamagna, and S. Ferraris Tetrahydrobiopterin loading test in hyperphenylalaninemia Pediatr Res 30 1991 435 438
-
(1991)
Pediatr Res
, vol.30
, pp. 435-438
-
-
Ponzone, A.1
Guardamagna, O.2
Ferraris, S.3
-
7
-
-
79952556731
-
4 therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up
-
4 therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up J Inherit Metab Dis 33 2010 689 695
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 689-695
-
-
Singh, R.H.1
Quirk, M.E.2
Douglas, T.D.3
-
8
-
-
0036213209
-
Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings
-
DOI 10.1023/A:1015194002487
-
U. Lässker, J. Zschocke, and N. Blau Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings J Inherit Metab Dis 25 2002 65 70 (Pubitemid 34303228)
-
(2002)
Journal of Inherited Metabolic Disease
, vol.25
, Issue.1
, pp. 65-70
-
-
Lassker, U.1
Zschocke, J.2
Blau, N.3
Santer, R.4
-
9
-
-
0035048113
-
Successful treatment of phenylketonuria with tetrahydrobiopterin
-
F.K. Trefz, C. Aulela-Scholz, and N. Blau Successful treatment of phenylketonuria with tetrahydrobiopterin Eur J Pediatr 160 2001 315
-
(2001)
Eur J Pediatr
, vol.160
, pp. 315
-
-
Trefz, F.K.1
Aulela-Scholz, C.2
Blau, N.3
-
10
-
-
82755189346
-
Up to date knowledge on different treatment strategies for phenylketonuria
-
A. Bélanger-Quintana, A. Burlina, and C.O. Harding Up to date knowledge on different treatment strategies for phenylketonuria Mol Genet Metab 104 2011 S19 S25
-
(2011)
Mol Genet Metab
, vol.104
-
-
Bélanger-Quintana, A.1
Burlina, A.2
Harding, C.O.3
-
11
-
-
35448951191
-
The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: Evaluation of response and subsequent treatment
-
M.D. Bóveda, M.L. Couce, and D.E. Castiñeiras The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment J Inherit Metab Dis 30 2007 812 820
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 812-820
-
-
Bóveda, M.D.1
Couce, M.L.2
Castiñeiras, D.E.3
-
12
-
-
73749088607
-
Management of phenylketonuria in Europe: Survey results from 19 countries
-
N. Blau, A. Bélanger-Quintana, and M. Demirkol Management of phenylketonuria in Europe: survey results from 19 countries Mol Genet Metab 99 2010 109 115
-
(2010)
Mol Genet Metab
, vol.99
, pp. 109-115
-
-
Blau, N.1
Bélanger-Quintana, A.2
Demirkol, M.3
-
14
-
-
84870989345
-
-
Martínez Pardo M, Bélanger-Quintana A, García Muñoz MJ, et al. at on 23 April 2012.
-
Martínez Pardo M, Bélanger-Quintana A, García Muñoz MJ, et al. at http://www.ae3com.eu/recursos-protocolo.php on 23 April 2012.
-
-
-
-
15
-
-
84871028854
-
-
Accessed at on 15 April 2012.
-
PAH mutation database, PAHdb. Accessed at www.pahdb.mcgill.ca/ on 15 April 2012.
-
PAH Mutation Database, PAHdb
-
-
-
17
-
-
84856228820
-
Optimising growth in phenylketonuria: Current state of the clinical evidence base
-
K. Dokoupil, H. Gokmen-Ozel, A.M. Lammardo, K. Motzfeldt, M. Robert, and J.C. Rocha Optimising growth in phenylketonuria: current state of the clinical evidence base Clin Nutr 31 2012 16 21
-
(2012)
Clin Nutr
, vol.31
, pp. 16-21
-
-
Dokoupil, K.1
Gokmen-Ozel, H.2
Lammardo, A.M.3
Motzfeldt, K.4
Robert, M.5
Rocha, J.C.6
-
18
-
-
20844440010
-
Tetrahydrobiopterin responsiveness in patients with phenylketonuria
-
DOI 10.1016/j.clinbiochem.2004.09.005, PII S0009912004002401
-
B. Pérez-Dueñas, M.A. Vilaseca, and A. Mas Tetrahydrobiopterin responsiveness in patients with phenylketonuria Clin Biochem 37 2004 1083 1090 (Pubitemid 39601096)
-
(2004)
Clinical Biochemistry
, vol.37
, Issue.12
, pp. 1083-1090
-
-
Perez-Duenas, B.1
Vilaseca, M.A.2
Mas, A.3
Lambruschini, N.4
Artuch, R.5
Gomez, L.6
Pineda, J.7
Gutierrez, A.8
Mila, M.9
Campistol, J.10
-
19
-
-
34248583457
-
4) Responsiveness in Phenylketonuria
-
DOI 10.1016/j.jpeds.2007.02.017, PII S0022347607001370
-
4 responsiveness in phenylketonuria J Pediatr 150 2007 627 630 (Pubitemid 46755809)
-
(2007)
Journal of Pediatrics
, vol.150
, Issue.6
, pp. 627-630
-
-
Fiege, B.1
Blau, N.2
-
20
-
-
69449106872
-
Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: Assessing responsiveness in a model of statistical process control
-
M. Lindner, G. Gramer, and S.F. Garbade Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control J Inherit Metab Dis 32 2009 514 522
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 514-522
-
-
Lindner, M.1
Gramer, G.2
Garbade, S.F.3
-
22
-
-
4744358646
-
4 loading test in 31 Spanish PKU patients and correlation with their genotype
-
DOI 10.1016/j.ymgme.2004.06.007, PII S1096719204001581, ASHG 2004 Meeting Toronto
-
L.R. Desviat, B. Pérez, and A. Bèlanger-Quintana Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype Mol Genet Metab 83 2004 157 162 (Pubitemid 39311290)
-
(2004)
Molecular Genetics and Metabolism
, vol.83
, Issue.1-2
, pp. 157-162
-
-
Desviat, L.R.1
Perez, B.2
Belanger-Quintana, A.3
Castro, M.4
Aguado, C.5
Sanchez, A.6
Garcia, M.J.7
Martinez-Pardo, M.8
Ugarte, M.9
-
23
-
-
82755197582
-
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: Evaluation of protocol and influence of baseline phenylalanine concentration
-
K. Anjema, G. Venema, and F.C. Hofstede The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentration Mol Genet Metab 104 2011 S60 S63
-
(2011)
Mol Genet Metab
, vol.104
-
-
Anjema, K.1
Venema, G.2
Hofstede, F.C.3
-
24
-
-
10744221135
-
Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene
-
DOI 10.1203/01.PDR.0000111283.91564.7E
-
H. Shintaku, S. Kure, and T. Ohura Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene Pediatr Res 55 2004 425 430 (Pubitemid 38240820)
-
(2004)
Pediatric Research
, vol.55
, Issue.3
, pp. 425-430
-
-
Shintaku, H.1
Kure, S.2
Ohura, T.3
Okano, Y.4
Ohwada, M.5
Sugiyama, N.6
Sakura, N.7
Yoshida, I.8
Yoshino, M.9
Matsubara, Y.10
Suzuki, K.11
Aoki, K.12
Kitagawa, T.13
-
25
-
-
59749083239
-
4 supplementation on phenylalanine tolerance
-
4 supplementation on phenylalanine tolerance J Inherit Metab Dis 32 2009 40 45
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 40-45
-
-
Burlina, A.1
Blau, N.2
-
26
-
-
33644958737
-
Tratamiento de la hiperfenilalaninemia por déficit de fenilalanina hidroxilasa con tetrahidrobiopterina. ¿cuándo y cómo?
-
A. Baldellou, M.I. Salazar, and M.P. Ruiz-Echarri Tratamiento de la hiperfenilalaninemia por déficit de fenilalanina hidroxilasa con tetrahidrobiopterina. ¿Cuándo y cómo? An Pediatr 64 2006 146 152
-
(2006)
An Pediatr
, vol.64
, pp. 146-152
-
-
Baldellou, A.1
Salazar, M.I.2
Ruiz-Echarri, M.P.3
-
27
-
-
0036928279
-
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: A study of 1919 patients observed from 1988 to 2002
-
DOI 10.1016/S1096-7192(02)00171-3, PII S1096719202001713
-
C. Bernegger, and N. Blau High frequency of tetrahydrobiopterin- responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002 Mol Gen Met 77 2002 304 313 (Pubitemid 36027137)
-
(2002)
Molecular Genetics and Metabolism
, vol.77
, Issue.4
, pp. 304-313
-
-
Bernegger, C.1
Blau, N.2
-
29
-
-
28844441226
-
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy
-
N. Lambruschini, B. Pérez-Dueñas, M.A. Vilaseca, A. Mas, R. Artuch, and R. Gassió Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy Mol Genet Metab 86 2005 S54 S60
-
(2005)
Mol Genet Metab
, vol.86
-
-
Lambruschini, N.1
Pérez-Dueñas, B.2
Vilaseca, M.A.3
Mas, A.4
Artuch, R.5
Gassió, R.6
-
30
-
-
0036353190
-
Mental illness in mild PKU responds to biopterin
-
DOI 10.1006/mgme.2001.3289
-
R. Koch, F. Guttler, and N. Blau Mental illness in mild PKU responds to biopterin Mol Genet Metab 75 2002 284 286 (Pubitemid 34971600)
-
(2002)
Molecular Genetics and Metabolism
, vol.75
, Issue.3
, pp. 284-286
-
-
Koch, R.1
Guttler, F.2
Blau, N.3
-
31
-
-
0037632905
-
Dopamine-dependent cytotoxicity of tetrahydrobiopterin: A possible mechanism for selective neurodegeneration in Parkinson's disease
-
DOI 10.1046/j.1471-4159.2003.01808.x
-
H.J. Choi, S.W. Kim, and S.Y. Lee Dopamine-dependent cytotoxicity of tetrahydrobiopterin: a possible mechanism for selective neurodegeneration in Parkinson's disease J Neurochem 86 2003 143 152 (Pubitemid 36753855)
-
(2003)
Journal of Neurochemistry
, vol.86
, Issue.1
, pp. 143-152
-
-
Choi, H.J.1
Kim, S.W.2
Lee, S.Y.3
Hwang, O.4
-
32
-
-
37349021748
-
Altered plasma versus vascular biopterins in human atherosclerosis reveal relationships between endothelial nitric oxide synthase coupling, endothelial function, and inflammation
-
DOI 10.1161/CIRCULATIONAHA.107.704155
-
C. Antoniades, C. Shirodaria, and M. Crabtree Altered plasma versus vascular biopterins in human atherosclerosis reveal relationships between endothelial nitric oxide synthase coupling, endothelial function, and inflammation Circulation 116 2007 2851 2859 (Pubitemid 350291226)
-
(2007)
Circulation
, vol.116
, Issue.24
, pp. 2851-2859
-
-
Antoniades, C.1
Shirodaria, C.2
Crabtree, M.3
Rinze, R.4
Alp, N.5
Cunnington, C.6
Diesch, J.7
Tousoulis, D.8
Stefanadis, C.9
Leeson, P.10
Ratnatunga, C.11
Pillai, R.12
Channon, K.M.13
-
33
-
-
0346848801
-
Tetrahydrobiopterin and Nitric Oxide: Mechanistic and Pharmacological Aspects
-
E.R. Werner, A.C. Gorren, and R. Heller Tetrahydrobiopterin and nitric oxide: mechanistic and pharmacological aspects Exp Biol Med (Maywood) 228 2003 1291 1302 (Pubitemid 37549234)
-
(2003)
Experimental Biology and Medicine
, vol.228
, Issue.11
, pp. 1291-1302
-
-
Werner, E.R.1
Gorren, A.C.F.2
Heller, R.3
Werner-Felmayer, G.4
Mayer, B.5
-
34
-
-
0036225777
-
Tetrahydrobiopterin biosynthesis, utilization and pharmacological effects
-
G. Werner-Felmayer, G. Golderer, and E.R. Werner Tetrahydrobiopterin byosynthesis, utilization and pharmacological effects Curr Drug Metab 3 2002 159 173 (Pubitemid 34326528)
-
(2002)
Current Drug Metabolism
, vol.3
, Issue.2
, pp. 159-173
-
-
Werner-Felmayer, G.1
Golderer, G.2
Werner, E.R.3
-
35
-
-
85031104965
-
Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years
-
M.L. Couce, M.D. Bóveda, and E. Valerio Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years J Inherit Metab Dis Rep 2 2011 91 96
-
(2011)
J Inherit Metab Dis Rep
, vol.2
, pp. 91-96
-
-
Couce, M.L.1
Bóveda, M.D.2
Valerio, E.3
|