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 *

128 related articles for article (PubMed ID: 539882)

  • 1. ["Transitory" phenylketonuria. A permanent deficit].
    Rey F; Leeming RJ; Curtius HC; Niederwieser A; Viscontini M; Rey J
    Arch Fr Pediatr; 1979 Nov; 36(9 Suppl):XLVIII-LV. PubMed ID: 539882
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.
    Kaufman S; Berlow S; Summer GK; Milstien S; Schulman JD; Orloff S; Spielberg S; Pueschel S
    N Engl J Med; 1978 Sep; 299(13):673-9. PubMed ID: 683251
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase].
    Rey F; Harpey JP; Leeming RJ; Blair JA; Aicardi J; Rey J
    Arch Fr Pediatr; 1977; 34(7 Suppl):CIX-CXX. PubMed ID: 931522
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Plasma biopterin levels and tetrahydrobiopterin responsiveness.
    Shintaku H; Fujioka H; Sawada Y; Asada M; Yamano T
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S104-6. PubMed ID: 16183315
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.
    Lindner M; Steinfeld R; Burgard P; Schulze A; Mayatepek E; Zschocke J
    Hum Mutat; 2003 Apr; 21(4):400. PubMed ID: 12655554
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.
    Steinfeld R; Kohlschütter A; Ullrich K; Lukacs Z
    Amino Acids; 2003 Jul; 25(1):63-8. PubMed ID: 12836060
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria.
    Boneh A; Francis DE; Humphrey M; Upton HJ; Peters HL
    J Paediatr Child Health; 2006 Sep; 42(9):496-8. PubMed ID: 16925533
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Phenylketonuria and its variants.
    Kaufman S; Milstien S
    Ann Clin Lab Sci; 1977; 7(2):178-85. PubMed ID: 557947
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.
    Feillet F; Chery C; Namour F; Kimmoun A; Favre E; Lorentz E; Battaglia-Hsu SF; Guéant JL
    Early Hum Dev; 2008 Sep; 84(9):561-7. PubMed ID: 18321666
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diseases of phenylalanine metabolism.
    Parker CE
    West J Med; 1979 Oct; 131(4):285-97. PubMed ID: 388868
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Different phenotypes for phenylalanine hydroxylase deficiency.
    Güttler F; Hansen G
    Ann Clin Biochem; 1977 May; 14(3):124-34. PubMed ID: 869488
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Atypical cases of phenylketonuria.
    Dhondt JL; Farriaux JP
    Eur J Pediatr; 1987; 146 Suppl 1():A38-43. PubMed ID: 3319636
    [No Abstract]   [Full Text] [Related]  

  • 14. A new variant form of phenylketonuria.
    Watts RW; Purkiss P; Chalmers RA
    Q J Med; 1979 Jul; 48(191):403-17. PubMed ID: 317358
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
    Fiori L; Fiege B; Riva E; Giovannini M
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S67-74. PubMed ID: 16198137
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Kinetics of phenylalanine disappearance after intravenous load in phenylketonuria and its genetic variants.
    Rey F; Blandin-Savoja F; Rey J
    Pediatr Res; 1979 Jan; 13(1):21-5. PubMed ID: 431997
    [No Abstract]   [Full Text] [Related]  

  • 17. [Trial of indirect screening of tetrahydrobiopterin deficiency].
    Ferraris S; Guardamagna O; Bracco G; Ponzone A
    Pediatrie; 1987; 42(7):549-55. PubMed ID: 3444720
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria.
    Ponzone A; Spada M; Roasio L; Porta F; Mussa A; Ferraris S
    J Pediatr Gastroenterol Nutr; 2008 May; 46(5):561-9. PubMed ID: 18493213
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis.
    Zschocke J; Graham CA; Stewart FJ; Carson DJ; Nevin NC
    Hum Mutat; 1994; 4(2):114-8. PubMed ID: 7981714
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Malignant phenylketonuria due to defective synthesis of dihydrobiopterin.
    Cohen BE; Szeinberg A; Quint J; Normand M; Blonder J; Peled I
    Isr J Med Sci; 1985 Jun; 21(6):520-5. PubMed ID: 3874852
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.