-
1
-
-
0036928279
-
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: A study of 1919 patients observed from 1988 to 2002
-
Bernegger C, Blau N (2002) High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: A study of 1919 patients observed from 1988 to 2002. Mol Genet Metab 77: 304-313.
-
(2002)
Mol Genet Metab
, vol.77
, pp. 304-313
-
-
Bernegger, C.1
Blau, N.2
-
2
-
-
2542429299
-
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Blau N, Erlandsen H (2004) The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 82: 101-111.
-
(2004)
Mol Genet Metab
, vol.82
, pp. 101-111
-
-
Blau, N.1
Erlandsen, H.2
-
3
-
-
0000138089
-
Disorders of tetrahydrobiopterin and related biogenic amines
-
In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. 8th edn. New York: McGraw-Hill
-
Blau N, Thöny B, Cotton RGH, Hyland K (2001) Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1725-1776.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1725-1776
-
-
Blau, N.1
Thöny, B.2
Cotton, R.G.H.3
Hyland, K.4
-
4
-
-
4744358646
-
Tetrahydrobiopterin responsiveness: Results of the BH 4 loading test in 31 Spanish PKU patients and correlation with their genotype
-
Desviat LR, Pérez B, Bèlanger-Quintana A, et al (2004) Tetrahydrobiopterin responsiveness: Results of the BH 4 loading test in 31 Spanish PKU patients and correlation with their genotype. Mol Genet Metab 82: 157-162.
-
(2004)
Mol Genet Metab
, vol.82
, pp. 157-162
-
-
Desviat, L.R.1
Pérez, B.2
Bèlanger-Quintana, A.3
-
5
-
-
33751022933
-
Relationships between phenylalanine and biopterin metabolisms
-
In: Wachter H, Curtius HC, Pfleiderer W, eds. Berlin: Walter de Gruyter
-
Dhondt JL, Farriaux JP (1982) Relationships between phenylalanine and biopterin metabolisms. In: Wachter H, Curtius HC, Pfleiderer W, eds. Biochemical and Clinical Aspects of Pteridines. Berlin: Walter de Gruyter, 319-336.
-
(1982)
Biochemical and Clinical Aspects of Pteridines
, pp. 319-336
-
-
Dhondt, J.L.1
Farriaux, J.P.2
-
7
-
-
0347086140
-
Plasma tetrahydrobiopterin and its pharmacokinetics following oral administration
-
Fiege B, Ballhausen D, Kierat L, et al., (2004) Plasma tetrahydrobiopterin and its pharmacokinetics following oral administration. Mol Genet Metab 81: 45-51.
-
(2004)
Mol Genet Metab
, vol.81
, pp. 45-51
-
-
Fiege, B.1
Ballhausen, D.2
Kierat, L.3
-
8
-
-
28844468010
-
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study
-
Fiege B, Bonafé L, Ballhausen D, et al (2005) Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study. Mol Genet Metab 86 (Supplement 1): 91-95.
-
(2005)
Mol Genet Metab
, vol.86
, Issue.SUPPL. 1
, pp. 91-95
-
-
Fiege, B.1
Bonafé, L.2
Ballhausen, D.3
-
9
-
-
28844506266
-
4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients
-
4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients. Mol Genet Metab 86 (Supplement 1): 67-74.
-
(2005)
Mol Genet Metab
, vol.86
, Issue.SUPPL. 1
, pp. 67-74
-
-
Fiori, L.1
Fiege, B.2
Riva, E.3
Giovannini, M.4
-
10
-
-
0013665463
-
Studies on metabolism and disposition of sapropterine hydrochloride (SUN-0588) l-erythro-tetrahydrobiopterin dichloride in rats
-
Hayashi T, Ogata A, Takehisha M, Komoridani K, Oonuma N (1992) Studies on metabolism and disposition of sapropterine hydrochloride (SUN-0588) l-erythro-tetrahydrobiopterin dichloride in rats. Clin Report 26: 3471-3495.
-
(1992)
Clin Report
, vol.26
, pp. 3471-3495
-
-
Hayashi, T.1
Ogata, A.2
Takehisha, M.3
Komoridani, K.4
Oonuma, N.5
-
11
-
-
0033504353
-
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
-
Kure S, Hou DC, Ohura T, et al (1999) Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 135 (3): 375-378.
-
(1999)
J Pediatr
, vol.135
, Issue.3
, pp. 375-378
-
-
Kure, S.1
Hou, D.C.2
Ohura, T.3
-
12
-
-
0036213209
-
Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings
-
La7die;ssker U, Zschocke J, Blau N, Santer R (2002) Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings. J Inherit Metab Dis 25: 65-70.
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 65-70
-
-
Lässke, U.1
Zschocke, J.2
Blau, N.3
Santer, R.4
-
13
-
-
33645686672
-
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency
-
Leuzzi V, Carducci C, Carducci C, et al (2006) The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency. J Inherit Metab Dis 29 (1): 38-46.
-
(2006)
J Inherit Metab Dis
, vol.29
, Issue.1
, pp. 38-46
-
-
Leuzzi, V.1
Carducci, C.2
Carducci, C.3
-
14
-
-
0037387768
-
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency
-
Lindner M, Steinfeld R, Burgard P, Schulze A, Mayatepek E, Zschocke J (2003) Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency. Hum Mutat 21 (4):400.
-
(2003)
Hum Mutat
, vol.21
, Issue.4
, pp. 400
-
-
Lindner, M.1
Steinfeld, R.2
Burgard, P.3
Schulze, A.4
Mayatepek, E.5
Zschocke, J.6
-
16
-
-
10744223885
-
Biopterin responsive phenylalanine hydroxylase deficiency
-
Matalon R, Koch R, Michals-Matalon K, et al (2004) Biopterin responsive phenylalanine hydroxylase deficiency. Genet Med 6 (1): 27-32.
-
(2004)
Genet Med
, vol.6
, Issue.1
, pp. 27-32
-
-
Matalon, R.1
Koch, R.2
Michals-Matalon, K.3
-
17
-
-
28844501717
-
Tetrahydrobiopterin-responsive phenylketonuria: The New South Wales experience
-
Mitchell JJ, Wilcken B, Alexander I, et al (2005) Tetrahydrobiopterin-responsive phenylketonuria: The New South Wales experience. Mol Genet Metab 86 (Supplement 1): S81-85.
-
(2005)
Mol Genet Metab
, vol.86
, Issue.SUPPL. 1
-
-
Mitchell, J.J.1
Wilcken, B.2
Alexander, I.3
-
18
-
-
0037180758
-
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria
-
Muntau AC, Roschinger W, Habich M, et al (2002) Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 347: 2122-2132.
-
(2002)
N Engl J Med
, vol.347
, pp. 2122-2132
-
-
Muntau, A.C.1
Roschinger, W.2
Habich, M.3
-
19
-
-
20844440010
-
Tetrahydrobiopterin responsiveness in patients with phenylketonuria
-
Perez-Duenas B, Vilaseca MA, Mas A, et al (2004) Tetrahydrobiopterin responsiveness in patients with phenylketonuria. Clin Biochem 37 (12): 1083-1090.
-
(2004)
Clin Biochem
, vol.37
, Issue.12
, pp. 1083-1090
-
-
Perez-Duenas, B.1
Vilaseca, M.A.2
Mas, A.3
-
20
-
-
0027180102
-
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes
-
Ponzone A, Guardamagna O, Spada M, et al (1993) Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes. Clin Chim Acta 216: 63-71.
-
(1993)
Clin Chim Acta
, vol.216
, pp. 63-71
-
-
Ponzone, A.1
Guardamagna, O.2
Spada, M.3
-
21
-
-
10744221135
-
Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene
-
Shintaku H, Kure S, Ohura T, et al (2004) Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. Pediatr Res 55: 425-430.
-
(2004)
Pediatr Res
, vol.55
, pp. 425-430
-
-
Shintaku, H.1
Kure, S.2
Ohura, T.3
-
22
-
-
28844455575
-
Plasma biopterin levels and tetrahydrobiopterin responsiveness
-
Shintaku H, Fujioka H, Sawada Y, Asada M, Yamano T (2005) Plasma biopterin levels and tetrahydrobiopterin responsiveness. Mol Genet Metab 86 (Supplement 1): S104-S106.
-
(2005)
Mol Genet Metab
, vol.86
, Issue.SUPPL. 1
-
-
Shintaku, H.1
Fujioka, H.2
Sawada, Y.3
Asada, M.4
Yamano, T.5
-
23
-
-
0034923705
-
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
-
Spaapen LJM, Bakker JA, Velter C, et al (2001) Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. J Inherit Metab Dis 24: 325-358.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 325-358
-
-
Spaapen, L.J.M.1
Bakker, J.A.2
Velter, C.3
-
24
-
-
0042268005
-
A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency
-
Steinfeld R, Kohlschutter A, Ullrich K, Lukacs Z (2003) A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency. Amino Acids 25 (1): 63-68.
-
(2003)
Amino Acids
, vol.25
, Issue.1
, pp. 63-68
-
-
Steinfeld, R.1
Kohlschutter, A.2
Ullrich, K.3
Lukacs, Z.4
-
25
-
-
0346753967
-
Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria
-
Trefz FK, Blau N (2003) Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria. Pediatrics 112: 1566-1569.
-
(2003)
Pediatrics
, vol.112
, pp. 1566-1569
-
-
Trefz, F.K.1
Blau, N.2
-
26
-
-
28844443876
-
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper
-
Zurflu ̈h MR, Fiori L, Fiege B, et al (2005) Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. Mol Genet Metab 86 (Supplement 1): 96-103.
-
(2005)
Mol Genet Metab
, vol.86
, Issue.SUPPL. 1
, pp. 96-103
-
-
Zurflüh, M.R.1
Fiori, L.2
Fiege, B.3
|