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Volumn 135, Issue 3, 1999, Pages 375-378

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

EID: 0033504353     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(99)70138-1     Document Type: Article
Times cited : (290)

References (15)
  • 3
    • 0021153355 scopus 로고
    • Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis
    • 3. Guttler F, Lou H, Lykkelund C, Niederwieser A. Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis. Eur J Pediatr 1984;142:126-9.
    • (1984) Eur J Pediatr , vol.142 , pp. 126-129
    • Guttler, F.1    Lou, H.2    Lykkelund, C.3    Niederwieser, A.4
  • 4
    • 0027219375 scopus 로고
    • Differential diagnosis of hyperphenylalaninemia by a combined phenylalanine-tetrahydrobiopterin loading test
    • 4. Ponzone A, Guardamagna O, Spaga M, Ferraris S, Ponzone R, Kierat L, et al. Differential diagnosis of hyperphenylalaninemia by a combined phenylalanine-tetrahydrobiopterin loading test. Eur J Pediatr 1993;152:655-61.
    • (1993) Eur J Pediatr , vol.152 , pp. 655-661
    • Ponzone, A.1    Guardamagna, O.2    Spaga, M.3    Ferraris, S.4    Ponzone, R.5    Kierat, L.6
  • 5
    • 0018868814 scopus 로고
    • Analysis of reduced forms of biopterin in biological tissues and fluids
    • 5. Fukushima T, Nixon JC. Analysis of reduced forms of biopterin in biological tissues and fluids. Anal Biochem 1980;102:176-88.
    • (1980) Anal Biochem , vol.102 , pp. 176-188
    • Fukushima, T.1    Nixon, J.C.2
  • 6
    • 0019977878 scopus 로고
    • Hyperphenylalaninemia due to dihydropteridine reductase deficiency: Diagnosis by enzyme assay on dried blood spots
    • 6. Arai N, Narisawa K, Hayakawa H, Tada K. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assay on dried blood spots. Pediatrics 1982;98:426-30.
    • (1982) Pediatrics , vol.98 , pp. 426-430
    • Arai, N.1    Narisawa, K.2    Hayakawa, H.3    Tada, K.4
  • 7
    • 0026488280 scopus 로고
    • Novel phenylketonuria mutation detected by analysis of ectopically transcribed phenylalanine hydroxylase mRNA from lymphoblast
    • 7. Takahashi K, Kure S, Matsubara Y, Narisawa K. Novel phenylketonuria mutation detected by analysis of ectopically transcribed phenylalanine hydroxylase mRNA from lymphoblast [abstract]. Lancet 1992;340:1473.
    • (1992) Lancet , vol.340 , pp. 1473
    • Takahashi, K.1    Kure, S.2    Matsubara, Y.3    Narisawa, K.4
  • 9
    • 0013665463 scopus 로고
    • Studies on metabolism and disposition of sapropterine hydrochloride (SUN-0588) L-erythro-tetrahydrobiopterin hydrochloride in rats
    • 9. Hayashi T, Ogata A, Takehisa M, Komoridani K, Oonuma N. Studies on metabolism and disposition of sapropterine hydrochloride (SUN-0588) L-erythro-tetrahydrobiopterin hydrochloride in rats. Clin Report 1992;26:3471-95.
    • (1992) Clin Report , vol.26 , pp. 3471-3495
    • Hayashi, T.1    Ogata, A.2    Takehisa, M.3    Komoridani, K.4    Oonuma, N.5
  • 11
    • 0027443015 scopus 로고
    • Phenylketonuria mutant alleles in different populations: Missense mutation in exon 7 of phenylalanine hydroxylase gene
    • 11. Takarada Y, Kalanin J, Yamashita K, Ohtsuka N, Kagawa S, Matsuoka A. Phenylketonuria mutant alleles in different populations: missense mutation in exon 7 of phenylalanine hydroxylase gene. Clin Chem 1993;39:2354-5.
    • (1993) Clin Chem , vol.39 , pp. 2354-2355
    • Takarada, Y.1    Kalanin, J.2    Yamashita, K.3    Ohtsuka, N.4    Kagawa, S.5    Matsuoka, A.6
  • 12
    • 0031025977 scopus 로고    scopus 로고
    • Analysis of the phenylalanine hydroxylase gene in the Spanish population: Mutation profile and association with intragenic polymorphic markers
    • 12. Perez B, Desviat LR, Ugarte M. Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers. Am J Hum Genet 1997;60:95-102.
    • (1997) Am J Hum Genet , vol.60 , pp. 95-102
    • Perez, B.1    Desviat, L.R.2    Ugarte, M.3
  • 13
    • 0014962728 scopus 로고
    • Purification and some physical properties of phenylalanine hydroxylase from rat liver
    • 13. Kaufman S, Fisher DB. Purification and some physical properties of phenylalanine hydroxylase from rat liver. J Biol Chem 1970;245:4745-50.
    • (1970) J Biol Chem , vol.245 , pp. 4745-4750
    • Kaufman, S.1    Fisher, D.B.2
  • 14
    • 84961415289 scopus 로고
    • A new theory of enterorecirculation of amino acids and its use for depleting unwanted amino acids using oral enzyme-artificial cells, as in removing phenylalanine in phenylketonuria
    • 14. Chang TM, Bourget L, Lister C. A new theory of enterorecirculation of amino acids and its use for depleting unwanted amino acids using oral enzyme-artificial cells, as in removing phenylalanine in phenylketonuria. Artif Cells Blood Substit Immobil Biotechnol 1995;23:1-21.
    • (1995) Artif Cells Blood Substit Immobil Biotechnol , vol.23 , pp. 1-21
    • Chang, T.M.1    Bourget, L.2    Lister, C.3
  • 15
    • 0021918515 scopus 로고
    • Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase
    • 15. Kwok SC, Ledley FD, DiLella AG, Robson KJ, Woo SL. Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 1985;24:556-61.
    • (1985) Biochemistry , vol.24 , pp. 556-561
    • Kwok, S.C.1    Ledley, F.D.2    DiLella, A.G.3    Robson, K.J.4    Woo, S.L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.