메뉴 건너뛰기




Volumn 29, Issue 6, 2006, Pages 725-731

Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

EID: 33751064142     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0425-6     Document Type: Article
Times cited : (29)

References (26)
  • 1
    • 0036928279 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.