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Volumn 34, Issue 12, 1997, Pages 1035-1036

Molecular basis of mild hyperphenylalaninaemia in Poland

Author keywords

Mild hyperphenylalaninaemia; PAH gene; Phenylketonuria

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

EID: 0030784955     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.12.1035     Document Type: Article
Times cited : (10)

References (10)
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    • (1980) Acta Paediatr Scand Suppl , vol.280 , pp. 1-80
    • Güttler, F.1
  • 2
    • 16944365361 scopus 로고
    • Mild hyperphenylalaninemia - Frequency, physical and mental development (in Polish)
    • Cabalska B, Sendecka E, Nowaczewska I, Zorska K. Mild hyperphenylalaninemia - frequency, physical and mental development (in Polish). Pediatr Pol 1994;59:339-44.
    • (1994) Pediatr Pol , vol.59 , pp. 339-344
    • Cabalska, B.1    Sendecka, E.2    Nowaczewska, I.3    Zorska, K.4
  • 4
  • 5
    • 0027248421 scopus 로고
    • Molecular basis for the phenotypic diversity of phenylketonuria and related hyperphenylalaninemias
    • Güttler F, Guldberg P, Henriksen I, et al. Molecular basis for the phenotypic diversity of phenylketonuria and related hyperphenylalaninemias. J Inherit Metab Dis 1993;16:602-4.
    • (1993) J Inherit Metab Dis , vol.16 , pp. 602-604
    • Güttler, F.1    Guldberg, P.2    Henriksen, I.3
  • 6
    • 0028034394 scopus 로고
    • Frequencies of the most common mutations responsible for phenylketonuria in Poland
    • Zekanowski C, Nowacka M, Zygulska M, et al. Frequencies of the most common mutations responsible for phenylketonuria in Poland. Mol Cell Probes 1994;8:323-4.
    • (1994) Mol Cell Probes , vol.8 , pp. 323-324
    • Zekanowski, C.1    Nowacka, M.2    Zygulska, M.3
  • 7
    • 0029932011 scopus 로고    scopus 로고
    • Molecular basis of non-PKU hyperphenylalaninemia in Spain: Prevalence of A403V, a mutation with high residual activity
    • Desviat LR, Perez B, Ugarte M. Molecular basis of non-PKU hyperphenylalaninemia in Spain: prevalence of A403V, a mutation with high residual activity. J Inherit Metab Dis 1996;19:227-30.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 227-230
    • Desviat, L.R.1    Perez, B.2    Ugarte, M.3
  • 8
    • 0029916892 scopus 로고    scopus 로고
    • PAH deficiency in Italy: Correlation of genotype with phenotype in the Sicilian population
    • Romano V, Guldberg P, Güttler F, et al. PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population. J Inherit Metab Dis 1996;19:15-24.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 15-24
    • Romano, V.1    Guldberg, P.2    Güttler, F.3
  • 9
    • 0028706944 scopus 로고
    • Mutations in the phenylalanine hydroxylase gene: Genetic determinants for the phenotypic variability of hyperphenylalaninemia
    • Güttler F, Guldberg P. Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia. Acta Paediatr Scand Suppl 1994;407:49-56.
    • (1994) Acta Paediatr Scand Suppl , vol.407 , pp. 49-56
    • Güttler, F.1    Guldberg, P.2
  • 10
    • 0028029176 scopus 로고
    • Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninemic disorders
    • Lichter-Konecki U, Rupp A, Konecki DS, et al. Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninemic disorders. J Inherit Metab Dis 1994;17:362-5.
    • (1994) J Inherit Metab Dis , vol.17 , pp. 362-365
    • Lichter-Konecki, U.1    Rupp, A.2    Konecki, D.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.