-
1
-
-
0000134296
-
Hyperphenylalaninemia. Phenylalanine hydroxylase deficiency
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw Hill, New York
-
Scriver C.R., and Kaufman S. Hyperphenylalaninemia. Phenylalanine hydroxylase deficiency. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited disease. 8th ed (2001), McGraw Hill, New York 1667-1724
-
(2001)
The metabolic and molecular bases of inherited disease. 8th ed
, pp. 1667-1724
-
-
Scriver, C.R.1
Kaufman, S.2
-
2
-
-
0033835283
-
Nutrition, physical growth, and bone density in treated phenylketonuria
-
Przyrembel H., and Bremer H.J. Nutrition, physical growth, and bone density in treated phenylketonuria. Eur. J. Pediatr. 159 Suppl 2 (2000) S129-S135
-
(2000)
Eur. J. Pediatr.
, vol.159
, Issue.SUPPL. 2
-
-
Przyrembel, H.1
Bremer, H.J.2
-
3
-
-
33947709950
-
Phenylketonuria: dietary and therapeutic challenges
-
Giovannini M., Verduci E., Salvatici E., Fiori L., and Riva E. Phenylketonuria: dietary and therapeutic challenges. J. Inherit. Metab. Dis. 30 (2007) 145-152
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 145-152
-
-
Giovannini, M.1
Verduci, E.2
Salvatici, E.3
Fiori, L.4
Riva, E.5
-
4
-
-
0024147741
-
The essentiality of n-3 fatty acids for the development and function of the retina and brain
-
M. Neuringer, G.J. Anderson, W.E. Connor The essentiality of n-3 fatty acids for the development and function of the retina and brain. Annu. Rev. Nutr. 988;8:517-41.
-
Annu. Rev. Nutr
, vol.988
, Issue.8
, pp. 517-541
-
-
Neuringer, M.1
Anderson, G.J.2
Connor, W.E.3
-
5
-
-
0025940476
-
Reduced plasma C-20 and C-22 polyunsaturated fatty acids in children with phenylketonuria during dietary intervention
-
Galli G., 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, G.1
Agostoni, C.2
Mosconi, C.3
Riva, E.4
Salari, P.C.5
Giovannini, M.6
-
6
-
-
0031850932
-
Long chain polyunsaturated fatty acids in plasma and erythocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake
-
Pöge A.P., Bäumann K., Müller E., Leichsenring M., Schmidt H., and Bremer H.J. Long chain polyunsaturated fatty acids in plasma and erythocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake. J. Inherit. Metab. Dis. 21 (1998) 373-381
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, pp. 373-381
-
-
Pöge, A.P.1
Bäumann, K.2
Müller, E.3
Leichsenring, M.4
Schmidt, H.5
Bremer, H.J.6
-
7
-
-
0028603449
-
Polyunsaturated fatty acid status in patients with phenylketonuria
-
Sanjurjo P., Perteagudo L., Rodriguez Soriano J., Vilaseca M.A., and Campistol J. Polyunsaturated fatty acid status in patients with phenylketonuria. J. Inherit. Metab. Dis. 17 (1994) 704-709
-
(1994)
J. Inherit. Metab. Dis.
, vol.17
, pp. 704-709
-
-
Sanjurjo, P.1
Perteagudo, L.2
Rodriguez Soriano, J.3
Vilaseca, M.A.4
Campistol, J.5
-
8
-
-
0029603534
-
The effects of n-3 and n-6 polyunsaturated fatty acids on plasma lipids and fatty acids of treated phenylketonuric children
-
Agostoni C., Riva E., Biasucci G., et al. The effects of n-3 and n-6 polyunsaturated fatty acids on plasma lipids and fatty acids of treated phenylketonuric children. Prostaglandins Leukot. Essent. Fatty Acids 53 (1995) 401-404
-
(1995)
Prostaglandins Leukot. Essent. Fatty Acids
, vol.53
, pp. 401-404
-
-
Agostoni, C.1
Riva, E.2
Biasucci, G.3
-
9
-
-
0029154223
-
Lipid status and fatty acid metabolism in phenylketonuria
-
Giovannini M., Biasucci G., Agostoni C., Luotti D., and Riva E. Lipid status and fatty acid metabolism in phenylketonuria. J. Inherit. Metab. Dis. 18 (1995) 265-272
-
(1995)
J. Inherit. Metab. Dis.
, vol.18
, pp. 265-272
-
-
Giovannini, M.1
Biasucci, G.2
Agostoni, C.3
Luotti, D.4
Riva, E.5
-
10
-
-
0036213208
-
Lipid status and long-chain polyunsaturated fatty acid concentrations in adults and adolescents with phenylketonuria on phenylalanine-restricted diet
-
Moseley K., Koch R., and Moser A.B. Lipid status and long-chain polyunsaturated fatty acid concentrations in adults and adolescents with phenylketonuria on phenylalanine-restricted diet. J. Inherit. Metab. Dis. 25 (2002) 56-64
-
(2002)
J. Inherit. Metab. Dis.
, vol.25
, pp. 56-64
-
-
Moseley, K.1
Koch, R.2
Moser, A.B.3
-
11
-
-
34250017342
-
Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial
-
Koletzko B., Sauerwald T., Demmelmair H., et al. Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial. J. Inherit. Metab. Dis. 30 (2007) 326-332
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 326-332
-
-
Koletzko, B.1
Sauerwald, T.2
Demmelmair, H.3
-
12
-
-
33646402910
-
Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism
-
Vlaardingerbroek H., Hornstra G., de Koning T.J., et al. Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism. Mol. Genet. Metab. 88 (2006) 159-165
-
(2006)
Mol. Genet. Metab.
, vol.88
, pp. 159-165
-
-
Vlaardingerbroek, H.1
Hornstra, G.2
de Koning, T.J.3
-
13
-
-
0035048113
-
Successful treatment of phenylketonuria with tetrahydrobiopterin
-
Trefz F., Aulehla-Scholz C., and Blau N. Successful treatment of phenylketonuria with tetrahydrobiopterin. Eur. J. Pediatr. 160 (2000) 315
-
(2000)
Eur. J. Pediatr.
, vol.160
, pp. 315
-
-
Trefz, F.1
Aulehla-Scholz, C.2
Blau, N.3
-
14
-
-
0036353190
-
Mental illness in mild PKU responds to biopterin
-
Koch R., Guttler F., and Blau N. Mental illness in mild PKU responds to biopterin. Mol. Genet. Metab. 75 (2002) 284-286
-
(2002)
Mol. Genet. Metab.
, vol.75
, pp. 284-286
-
-
Koch, R.1
Guttler, F.2
Blau, N.3
-
15
-
-
0036302431
-
Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations
-
Steinfeld R., Kohlschutter A., Zschocke J., Lindner M., Ullrich K., and Lukacs Z. Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations. Eur. J. Pediatr. 161 (2002) 403-405
-
(2002)
Eur. J. Pediatr.
, vol.161
, pp. 403-405
-
-
Steinfeld, R.1
Kohlschutter, A.2
Zschocke, J.3
Lindner, M.4
Ullrich, K.5
Lukacs, Z.6
-
16
-
-
10744221135
-
Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene
-
Shintaku H., Kure S., Ohura T., et al. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. Pediatr. Res. 55 (2004) 425-430
-
(2004)
Pediatr. Res.
, vol.55
, pp. 425-430
-
-
Shintaku, H.1
Kure, S.2
Ohura, T.3
-
18
-
-
28844441226
-
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy
-
Lambruschini N., Pérez-Dueñas B., Vilaseca M.A., et al. Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy. Mol. Genet. Metab. 86 Suppl 1 (2005) S54-S60
-
(2005)
Mol. Genet. Metab.
, vol.86
, Issue.SUPPL. 1
-
-
Lambruschini, N.1
Pérez-Dueñas, B.2
Vilaseca, M.A.3
-
19
-
-
2542429299
-
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Blau N., and Erlandsen H. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol. Genet. Metab. 82 (2004) 101-111
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 101-111
-
-
Blau, N.1
Erlandsen, H.2
-
20
-
-
20844440010
-
Tetrahydrobiopterin responsiveness in patients with phenylketonuria
-
Pérez-Dueñas B., Vilaseca M.A., Mas A., et al. Tetrahydrobiopterin responsiveness in patients with phenylketonuria. Clin. Biochem. 37 (2004) 1083-1090
-
(2004)
Clin. Biochem.
, vol.37
, pp. 1083-1090
-
-
Pérez-Dueñas, B.1
Vilaseca, M.A.2
Mas, A.3
-
21
-
-
76749149706
-
-
WHO Child Growth Standards: Methods and development: length/height-for-age, weight-for-age, weight-for-length, weight-for-height and body mass index-for-age. [monograph on the Internet]. Geneva: World Health Organization; 2006 [cited 2009 Aug 23]. Available at: http://www.who.int/childgrowth/publications/technical_report_pub/en/index.html.
-
WHO Child Growth Standards: Methods and development: length/height-for-age, weight-for-age, weight-for-length, weight-for-height and body mass index-for-age. [monograph on the Internet]. Geneva: World Health Organization; 2006 [cited 2009 Aug 23]. Available at: http://www.who.int/childgrowth/publications/technical_report_pub/en/index.html.
-
-
-
-
22
-
-
67349089608
-
Protein and amino acid requirements in human nutrition. [monograph on the Internet]
-
no. 935, Geneva:, cited 2009 Aug 23, Available at
-
Report of a joint FAO/WHO/UNU Expert Consultation (WHO Technical Report Series; no. 935). Protein and amino acid requirements in human nutrition. [monograph on the Internet]. Geneva: World Health Organization; 2007 [cited 2009 Aug 23]. Available at: http://whqlibdoc.who.int/trs/WHO_TRS_935_eng.pdf.
-
(2007)
Report of a joint FAO/WHO/UNU Expert Consultation (WHO Technical Report Series
-
-
-
23
-
-
0031439216
-
Determinación de carnitina en plasma por un procedimiento espectrométrico. Valores de referencia para una población pediátrica
-
Artuch R., Quintana M., Moyano D., Moreno J., Puig R., and Vilaseca M.A. Determinación de carnitina en plasma por un procedimiento espectrométrico. Valores de referencia para una población pediátrica. Quím. Clín. 16 (1997) 397-400
-
(1997)
Quím. Clín.
, vol.16
, pp. 397-400
-
-
Artuch, R.1
Quintana, M.2
Moyano, D.3
Moreno, J.4
Puig, R.5
Vilaseca, M.A.6
-
24
-
-
0030837164
-
Tocopherol in inborn errors of intermediary metabolism
-
Moyano D., Vilaseca M.A., Artuch R., et al. Tocopherol in inborn errors of intermediary metabolism. Clin. Chim. Acta 263 (1997) 147-155
-
(1997)
Clin. Chim. Acta
, vol.263
, pp. 147-155
-
-
Moyano, D.1
Vilaseca, M.A.2
Artuch, R.3
-
25
-
-
0024238737
-
HPLC measurement of phenylalanine in plasma
-
Atherton N.D., and Green A. HPLC measurement of phenylalanine in plasma. Clin. Chem. 34 (1988) 2241-2244
-
(1988)
Clin. Chem.
, vol.34
, pp. 2241-2244
-
-
Atherton, N.D.1
Green, A.2
-
27
-
-
0024458253
-
Direct transesterification of plasma fatty acids for the diagnosis of essential fatty acid deficiency in cystic fibrosis
-
Lepage G., Levy E., Ronco N., Smith L., Galéano N., and Roy C.C. Direct transesterification of plasma fatty acids for the diagnosis of essential fatty acid deficiency in cystic fibrosis. J. Lipid Res. 30 (1989) 1483-1490
-
(1989)
J. Lipid Res.
, vol.30
, pp. 1483-1490
-
-
Lepage, G.1
Levy, E.2
Ronco, N.3
Smith, L.4
Galéano, N.5
Roy, C.C.6
-
28
-
-
6444244590
-
Assessment of essential fatty acid and omega3-fatty acid status by measurement of erythrocyte 20:3omega9 (Mead acid), 22:5 omega6/20:4 omega 6 and 22:5omega 6/22:6omega 3
-
Fokkema M.R., Smit E.N., Martini I.A., Woltil H.A., Boersma E.R., and Muskiet F.A. Assessment of essential fatty acid and omega3-fatty acid status by measurement of erythrocyte 20:3omega9 (Mead acid), 22:5 omega6/20:4 omega 6 and 22:5omega 6/22:6omega 3. Prostaglandins Leukot. Essent. Fatty Acids 67 (2002) 345-356
-
(2002)
Prostaglandins Leukot. Essent. Fatty Acids
, vol.67
, pp. 345-356
-
-
Fokkema, M.R.1
Smit, E.N.2
Martini, I.A.3
Woltil, H.A.4
Boersma, E.R.5
Muskiet, F.A.6
-
29
-
-
0026048644
-
Essential fatty acids in growth and development
-
Innis S.M. Essential fatty acids in growth and development. Prog. Lipid Res. 30 (1991) 39-103
-
(1991)
Prog. Lipid Res.
, vol.30
, pp. 39-103
-
-
Innis, S.M.1
-
30
-
-
0034543121
-
The essential fatty acid status in phenylketonuria patients under treatment
-
van Gool C.J., van Houwelingen A.C., and Hornstra G. The essential fatty acid status in phenylketonuria patients under treatment. J. Nutr. Biochem. 11 (2000) 543-547
-
(2000)
J. Nutr. Biochem.
, vol.11
, pp. 543-547
-
-
van Gool, C.J.1
van Houwelingen, A.C.2
Hornstra, G.3
-
31
-
-
0035715131
-
Impaired arachidonic (20:4n-6) and docosahexaenoic (22:6n-3) acid synthesis by phenylalanine metabolites as etiological factors in the neuropathology of phenylketonuria
-
Infante J.P., and Huszagh V.A. Impaired arachidonic (20:4n-6) and docosahexaenoic (22:6n-3) acid synthesis by phenylalanine metabolites as etiological factors in the neuropathology of phenylketonuria. Mol. Genet. Metab. 72 (2001) 185-198
-
(2001)
Mol. Genet. Metab.
, vol.72
, pp. 185-198
-
-
Infante, J.P.1
Huszagh, V.A.2
-
32
-
-
0025188726
-
Serum carnitine level in phenylketonuric children under dietary control in Greece
-
Schulpis K.H., Nounopoulos C., Scarpalezou A., Bouloukos A., and Missiou-Tsagarakis S. Serum carnitine level in phenylketonuric children under dietary control in Greece. Acta Paediatr. Scand. 79 (1990) 930-934
-
(1990)
Acta Paediatr. Scand.
, vol.79
, pp. 930-934
-
-
Schulpis, K.H.1
Nounopoulos, C.2
Scarpalezou, A.3
Bouloukos, A.4
Missiou-Tsagarakis, S.5
-
33
-
-
0027531564
-
Controlled diet in phenylketonuria may cause serum carnitine deficiency
-
Vilaseca M.A., Briones P., Ferrer I., Campistol J., Riverola A., Castillo P., and Ramon F. Controlled diet in phenylketonuria may cause serum carnitine deficiency. J. Inherit. Metab. Dis. 16 (1993) 101-104
-
(1993)
J. Inherit. Metab. Dis.
, vol.16
, pp. 101-104
-
-
Vilaseca, M.A.1
Briones, P.2
Ferrer, I.3
Campistol, J.4
Riverola, A.5
Castillo, P.6
Ramon, F.7
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