BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

133 related articles for article (PubMed ID: 11043163)

  • 1. PAH gene mutation analysis in clinical practice--comments on mutation analysis anticipates dietary requirements in phenylketonuria.
    Zschocke J; Hoffmann GF
    Eur J Pediatr; 2000 Oct; 159 Suppl 2():S154-5. PubMed ID: 11043163
    [No Abstract]   [Full Text] [Related]  

  • 2. Mutation analysis anticipates dietary requirements in phenylketonuria.
    Güttler F; Guldberg P
    Eur J Pediatr; 2000 Oct; 159 Suppl 2():S150-3. PubMed ID: 11043162
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria.
    Scriver CR
    J Clin Invest; 1998 Jun; 101(12):2613-4. PubMed ID: 9637693
    [No Abstract]   [Full Text] [Related]  

  • 4. Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.
    Zhang Z; Gao JJ; Feng Y; Zhu LL; Yan H; Shi XF; Chang AM; Shi Y; Wang P
    Scand J Clin Lab Invest; 2018 May; 78(3):211-218. PubMed ID: 29390883
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.
    Konecki DS; Lichter-Konecki U
    Hum Genet; 1991 Aug; 87(4):377-88. PubMed ID: 1679029
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.
    Lindner M; Haas D; Mayatepek E; Zschocke J; Burgard P
    Mol Genet Metab; 2001 May; 73(1):104-6. PubMed ID: 11350190
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Molecular basis of phenylketonuria].
    Jaruzelska J; Słomski R
    Postepy Biochem; 1990; 36(3-4):24-31. PubMed ID: 1982772
    [No Abstract]   [Full Text] [Related]  

  • 8. [Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].
    Shu JB; Meng YT; Dang LH; Fu BJ; Song L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):635-41. PubMed ID: 23225039
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders.
    Hennermann JB; Roloff S; Gebauer C; Vetter B; von Arnim-Baas A; Mönch E
    Mol Genet Metab; 2012 Nov; 107(3):294-301. PubMed ID: 23062575
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Consensus statement on dietary treatment and nutritional management for phenylalanine hydroxylase deficiency].
    ; ; ;
    Zhonghua Er Ke Za Zhi; 2019 Jun; 57(6):405-409. PubMed ID: 31216795
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular basis and population genetics of phenylketonuria.
    Woo SL
    Biochemistry; 1989 Jan; 28(1):1-7. PubMed ID: 2565120
    [No Abstract]   [Full Text] [Related]  

  • 12. Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations.
    Byck S; Morgan K; Tyfield L; Dworniczak B; Scriver CR
    Hum Mol Genet; 1994 Sep; 3(9):1675-7. PubMed ID: 7833927
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
    Dobrowolski SF; Borski K; Ellingson CC; Koch R; Levy HL; Naylor EW
    J Hum Genet; 2009 Jun; 54(6):335-9. PubMed ID: 19444284
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles.
    Kostandyan N; Britschgi C; Matevosyan A; Oganezova A; Davtyan A; Blau N; Steinmann B; Thöny B
    Mol Genet Metab; 2011; 104 Suppl():S93-6. PubMed ID: 21890392
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Frequencies of the most common mutations responsible for phenylketonuria in Poland.
    Zekanowski C; Nowacka M; Zgulska M; Horst J; Cabalska B; Mazurczak T
    Mol Cell Probes; 1994 Aug; 8(4):323-4. PubMed ID: 7870074
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.
    Ledley FD; Levy HL; Woo SL
    N Engl J Med; 1986 May; 314(20):1276-80. PubMed ID: 3702929
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
    Kure S; Hou DC; Ohura T; Iwamoto H; Suzuki S; Sugiyama N; Sakamoto O; Fujii K; Matsubara Y; Narisawa K
    J Pediatr; 1999 Sep; 135(3):375-8. PubMed ID: 10484807
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias.
    Güttler F; Guldberg P; Henriksen KF; Mikkelsen I; Olsen B; Lou H
    J Inherit Metab Dis; 1993; 16(3):602-4. PubMed ID: 7609462
    [No Abstract]   [Full Text] [Related]  

  • 19. Mutation screening versus gene scanning for genotyping phenylketonuria patients.
    Guldberg P; Güttler F
    J Inherit Metab Dis; 1994; 17(3):359-61. PubMed ID: 7807953
    [No Abstract]   [Full Text] [Related]  

  • 20. The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.
    Güttler F; Guldberg P
    Eur J Pediatr; 1996 Jul; 155 Suppl 1():S6-10. PubMed ID: 8828600
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.