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342 related items for PubMed ID: 8404969

  • 1. Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test.
    Ponzone A, Guardamagna O, Spada M, Ferraris S, Ponzone R, Kierat L, Blau N.
    Eur J Pediatr; 1993 Aug; 152(8):655-61. PubMed ID: 8404969
    [Abstract] [Full Text] [Related]

  • 2. [Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].
    Ye J, Qiu WJ, Han LS, Zhang HW, Zhou JD, Gao XL, Wang Y, Gu XF.
    Zhonghua Er Ke Za Zhi; 2008 Apr; 46(4):281-5. PubMed ID: 19099731
    [Abstract] [Full Text] [Related]

  • 3. [The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency].
    Ye J, Qiu WJ, Han LS, Zhou JD, Gao XL, Gu XF.
    Zhonghua Yu Fang Yi Xue Za Zhi; 2009 Feb; 43(2):128-31. PubMed ID: 19534905
    [Abstract] [Full Text] [Related]

  • 4. [Clinical study of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency in southern and northern Chinese patients].
    Yang L, Zhang ZX, Ye J, Zhou ZS, Shen M, Han LS, Qiu W, Yu WM, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun; 24(3):310-3. PubMed ID: 17557244
    [Abstract] [Full Text] [Related]

  • 5. [Study on tetrahydrobiopterin deficiency in Northern Chinese population].
    Wang L, Yu WM, Li XW, He C, Chang M, Shen M, Zhao SP, Fu GX, Shen S, Liu TT, Hsiao KJ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):275-9. PubMed ID: 16767663
    [Abstract] [Full Text] [Related]

  • 6.
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  • 7. Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.
    Ponzone A, Guardamagna O, Dianzani I, Ponzone R, Ferrero GB, Spada M, Cotton RG.
    Pediatr Res; 1993 Feb; 33(2):125-8. PubMed ID: 8433887
    [Abstract] [Full Text] [Related]

  • 8.
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  • 9. Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
    Ponzone A, Porta F, Mussa A, Alluto A, Ferraris S, Spada M.
    Metabolism; 2010 May; 59(5):645-52. PubMed ID: 19913839
    [Abstract] [Full Text] [Related]

  • 10. Disorders of tetrahydrobiopterin metabolism and their treatment.
    Shintaku H.
    Curr Drug Metab; 2002 Apr; 3(2):123-31. PubMed ID: 12003346
    [Abstract] [Full Text] [Related]

  • 11. Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes.
    Ponzone A, Guardamagna O, Spada M, Ponzone R, Sartore M, Kierat L, Heizmann CW, Blau N.
    Clin Chim Acta; 1993 Jul 16; 216(1-2):63-71. PubMed ID: 8222274
    [Abstract] [Full Text] [Related]

  • 12. Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.
    Fiori L, Fiege B, Riva E, Giovannini M.
    Mol Genet Metab; 2005 Dec 16; 86 Suppl 1():S67-74. PubMed ID: 16198137
    [Abstract] [Full Text] [Related]

  • 13. Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.
    Trefz FK, Blau N.
    Pediatrics; 2003 Dec 16; 112(6 Pt 2):1566-9. PubMed ID: 14654666
    [Abstract] [Full Text] [Related]

  • 14. Response of 6-pyruvoyl-tetrahydropterin synthase deficiency to tetrahydrobiopterin.
    al Aqeel A, Ozand PT, Gascon GG, Hughes H, Reynolds CT, Subramanyam SB.
    J Child Neurol; 1992 Apr 16; 7 Suppl():S26-30. PubMed ID: 1588012
    [Abstract] [Full Text] [Related]

  • 15. Disorders of biopterin metabolism.
    Longo N.
    J Inherit Metab Dis; 2009 Jun 16; 32(3):333-42. PubMed ID: 19234759
    [Abstract] [Full Text] [Related]

  • 16. Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.
    Nardecchia F, Chiarotti F, Carducci C, Santagata S, Valentini G, Angeloni A, Blau N, Leuzzi V.
    Eur J Pediatr; 2017 Jul 16; 176(7):917-924. PubMed ID: 28540433
    [Abstract] [Full Text] [Related]

  • 17. [Differential diagnosis of increased phenylalanine blood level in infancy. Results of the German collaborative study on phenylketonuria (PKU)/hyperphenylalaninemia (HPA)].
    Schmidt H, Lutz P, Batzler U.
    Monatsschr Kinderheilkd; 1989 Feb 16; 137(2):86-92. PubMed ID: 2654616
    [Abstract] [Full Text] [Related]

  • 18. "Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.
    Niederwieser A, Shintaku H, Leimbacher W, Curtius HC, Hyànek J, Zeman J, Endres W.
    Eur J Pediatr; 1987 May 16; 146(3):228-32. PubMed ID: 3297709
    [Abstract] [Full Text] [Related]

  • 19. The screening diagnosis of tetrahydrobiopterin deficient phenylketonuria.
    Ning C, Liu SR, Wei H, Wang S, Shu D, Blau N, Wang MT.
    J Tongji Med Univ; 1992 May 16; 12(4):216-8. PubMed ID: 1289568
    [Abstract] [Full Text] [Related]

  • 20. Transient hyperphenylalaninaemia with a high neopterin to biopterin ratio in urine.
    Takahashi T, Kodama S, Nishio H, Takumi T, Matsuo T, Hase Y, Sawada Y.
    J Inherit Metab Dis; 1985 May 16; 8(3):105-8. PubMed ID: 3939585
    [Abstract] [Full Text] [Related]

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