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Volumn 112, Issue 6 II, 2003, Pages 1530-1533

Impact of the Phenylalanine Hydroxylase Gene on Maternal Phenylketonuria Outcome

Author keywords

Cognitive development; Maternal PKU; Mutation; Phenylalanine hydroxylase; PKU

Indexed keywords

GENE PRODUCT; PHENYLALANINE 4 MONOOXYGENASE;

EID: 0347385138     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (19)

References (13)
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    • Guldberg P, Rey F, Zschocke J, et al. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet. 1998;63:71-79
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  • 3
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    • Guldberg, P.1    Levy, H.L.2    Hanley, W.B.3
  • 6
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    • Fluorometric method for determination of phenylalanine in serum
    • McCaman MW, Robins E. Fluorometric method for determination of phenylalanine in serum. J Lab Clin Med. 1962;59:885-890
    • (1962) J Lab Clin Med , vol.59 , pp. 885-890
    • McCaman, M.W.1    Robins, E.2
  • 7
    • 0019288144 scopus 로고
    • Hyperphenylalaninemia: Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood
    • Güttler F. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood. Acta Paediatr Scand Suppl. 1980;280:1-80
    • (1980) Acta Paediatr Scand Suppl , vol.280 , pp. 1-80
    • Güttler, F.1
  • 8
    • 0026607030 scopus 로고
    • Maternal phenylketonuria collaborative study, obstetric aspects and outcome: The first 6 years
    • Platt LD, Koch R, Azen C, et al. Maternal phenylketonuria collaborative study, obstetric aspects and outcome: the first 6 years. Am J Obstet Gynecol. 1992;166:1150-1160
    • (1992) Am J Obstet Gynecol , vol.166 , pp. 1150-1160
    • Platt, L.D.1    Koch, R.2    Azen, C.3
  • 9
    • 0028217614 scopus 로고
    • "Broad-range" DGGE for single-step mutation scanning of entire genes: Application to human phenylalanine hydroxylase gene
    • Guldberg P, Güttler F. "Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene. Nucleic Acids Res. 1994;22:880-881
    • (1994) Nucleic Acids Res , vol.22 , pp. 880-881
    • Guldberg, P.1    Güttler, F.2
  • 10
    • 0028998995 scopus 로고
    • In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: Characterization of seven common mutations
    • Guldberg P, Mikkelsen I, Henriksen KF, Lou HC, Güttler F. In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations. Eur J Pediatr. 1995;154:551-556
    • (1995) Eur J Pediatr , vol.154 , pp. 551-556
    • Guldberg, P.1    Mikkelsen, I.2    Henriksen, K.F.3    Lou, H.C.4    Güttler, F.5
  • 11
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    • Güttler, F.1    Guldberg, P.2
  • 12
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    • Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: Report from the Maternal Phenylketonuria Collaborative Study
    • Güttler F, Azen C, Guldberg P, et al. Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study. Pediatrics. 1999;104:258-262
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.