These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

121 related articles for article (PubMed ID: 2857230)

  • 1. Detection of phenylalanine hydroxylase messenger RNA in liver biopsy samples from patients with phenylketonuria.
    DiLella AG; Ledley FD; Rey F; Munnich A; Woo SL
    Lancet; 1985 Jan; 1(8421):160-1. PubMed ID: 2857230
    [No Abstract]   [Full Text] [Related]  

  • 2. Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria.
    Ledley FD; Koch R; Jew K; Beaudet A; O'Brien WE; Bartos DP; Woo SL
    J Pediatr; 1988 Sep; 113(3):463-8. PubMed ID: 2900886
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel phenylketonuria mutation detected by analysis of ectopically transcribed phenylalanine hydroxylase mRNA from lymphoblast.
    Takahashi K; Kure S; Matsubara Y; Narisawa K
    Lancet; 1992 Dec; 340(8833):1473. PubMed ID: 1360590
    [No Abstract]   [Full Text] [Related]  

  • 4. Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations.
    Spada M; Dianzani I; Bonetti G; Biondi A; Leone L; Giannattasio S; Ponzone A
    J Inherit Metab Dis; 1998 Jun; 21(3):236-9. PubMed ID: 9686365
    [No Abstract]   [Full Text] [Related]  

  • 5. 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]  

  • 6. Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.
    Bénit P; Rey F; Melle D; Munnich A; Rey J
    Hum Mutat; 1994; 4(3):229-31. PubMed ID: 7833954
    [No Abstract]   [Full Text] [Related]  

  • 7. Large deletions in the phenylalanine hydroxylase gene as a cause of phenylketonuria in India.
    Guldberg P; Henriksen KF; Mammen KC; Levy HL; Güttler F
    J Inherit Metab Dis; 1997 Nov; 20(6):845-6. PubMed ID: 9427161
    [No Abstract]   [Full Text] [Related]  

  • 8. Focus on the molecular genetics of phenylketonuria.
    Zschocke J
    Hum Mutat; 2003 Apr; 21(4):331-2. PubMed ID: 12655542
    [No Abstract]   [Full Text] [Related]  

  • 9. The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg.
    Baranovskaya S; Shevtsov S; Maksimova S; Kuzmin A; Schwartz E
    J Inherit Metab Dis; 1996; 19(5):705. PubMed ID: 8892033
    [No Abstract]   [Full Text] [Related]  

  • 10. Detection of hepatic phenylalanine 4-hydroxylase in classical phenylketonuria.
    Friedman PA; Fisher DB; Kang ES; Kaufman S
    Proc Natl Acad Sci U S A; 1973 Feb; 70(2):552-6. PubMed ID: 4405625
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.
    Zygulska M; Eigel A; Pietrzyk JJ; Horst J
    Hum Mutat; 1993; 2(3):238-9. PubMed ID: 8364593
    [No Abstract]   [Full Text] [Related]  

  • 12. [Mutation in the structure of exon 7 of the phenylalanine hydroxylase in phenylketonuria patients from the Novosibirsk area].
    Smagulova FO; Maslennikov AB; Morozov IV; Kitaĭnik GP
    Genetika; 2000 Jun; 36(6):849-52. PubMed ID: 10923269
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria.
    Choo KH; Cotton RG; Danks DM; Jennings IG
    Biochem J; 1979 Aug; 181(2):285-94. PubMed ID: 496890
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme.
    Waters PI; Hewson AS; Scriver CR; Treacy EP; Martinez A; Knappskog PM; Parniak MA
    Biochem Soc Trans; 1997 May; 25(2):362S. PubMed ID: 9191407
    [No Abstract]   [Full Text] [Related]  

  • 15. [Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria].
    Nechiporenko MV; Lalivshits LA
    Tsitol Genet; 2000; 34(6):59-63. PubMed ID: 11391893
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria.
    Kleiman S; Li J; Schwartz G; Eisensmith RC; Woo SL; Shiloh Y
    Hum Mol Genet; 1993 May; 2(5):605-6. PubMed ID: 8518802
    [No Abstract]   [Full Text] [Related]  

  • 17. Phenylketonuria in China: identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene.
    Li J; Eisensmith RC; Wang T; Lo WH; Huang SZ; Zeng YT; Yuan LF; Liu SR; Woo SL
    Hum Mutat; 1994; 3(3):312-4. PubMed ID: 8019568
    [No Abstract]   [Full Text] [Related]  

  • 18. Novel homozygous mutation of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria.
    Takarada Y; Yamashita K; Ohtsuka N; Kagawa S; Matsuoka A
    Clin Chem; 1993 Jun; 39(6):1350. PubMed ID: 8504552
    [No Abstract]   [Full Text] [Related]  

  • 19. [Identification of a nature of mutation in the 12th exon of phenylalanine hydroxylase gene in patients with phenylketonuria].
    Skriabin BV; Koval'chuk LA; Khal'chitskiĭ SE; Gol'tsov AA; Kaboev OK; Plutalov OV; Berlin IuA; Shvarts EI
    Bioorg Khim; 1989 Dec; 15(12):1690-2. PubMed ID: 2634967
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.
    Chen KJ; Chao HK; Hsiao KJ; Su TS
    Hum Genet; 2002 Mar; 110(3):235-43. PubMed ID: 11935335
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.