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Volumn 83, Issue , 1994, Pages 49-56

Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE; PHENYLALANINE;

EID: 0028706944     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.1994.tb13451.x     Document Type: Article
Times cited : (25)

References (47)
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    • (1951) Lancet , vol.1 , pp. 272-273
    • Cowie, V.1
  • 18
    • 0019212423 scopus 로고
    • Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood
    • (1980) Acta Paedriatr Scand , pp. 1-80
    • Güttler, F.1
  • 22
    • 0021716543 scopus 로고
    • Phenylketonuria: 50 years since Følling's discovery and still expanding our clinical and biochemical knowledge
    • (1984) Acta Paediatrica , vol.73 , pp. 705-716
    • Güttler, F.1
  • 23
    • 0027533685 scopus 로고
    • Recommandations on the dietary management of phenylketonuria
    • (1993) Arch Dis Child , vol.68 , pp. 426-427
  • 29
    • 0028217614 scopus 로고
    • Broad‐range’ DGGE for single‐step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene
    • (1994) Nucleic Acids Res , vol.22 , pp. 880-881
    • Guldberg, P1    Güttler, F.2
  • 36
    • 0022606741 scopus 로고
    • Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders
    • (1986) N Engl J Med , vol.314 , pp. 1276-1280
    • Ledley, FD1    Levy, HL2    Woo, SLC.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.