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Journal Abstract Search

179 related items for PubMed ID: 7005193

  • 1.
    ; . PubMed ID:
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  • 2. Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
    Zurflüh MR, Giovannini M, Fiori L, Fiege B, Gokdemir Y, Baykal T, Kierat L, Gärtner KH, Thöny B, Blau N.
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S96-103. PubMed ID: 16275037
    [Abstract] [Full Text] [Related]

  • 3. 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
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  • 5. [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
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  • 7. Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine.
    Dhondt JL, Largilliere C, Ardouin P, Farriaux JP, Dautrevaux M.
    Clin Chim Acta; 1981 Mar 05; 110(2-3):205-14. PubMed ID: 7014037
    [Abstract] [Full Text] [Related]

  • 8. Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.
    Dhondt JL, Farriaux JP, Largilliere C, Dautrevaux M, Ardouin P.
    J Inherit Metab Dis; 1981 Mar 05; 4(2):47-8. PubMed ID: 6790841
    [Abstract] [Full Text] [Related]

  • 9. [Differential diagnosis and therapy of various forms of hyperphenylalaninemia: facts and fiction].
    Endres W.
    Wien Klin Wochenschr; 1992 Mar 05; 104(16):503-9. PubMed ID: 1413808
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  • 10.
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  • 11. Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.
    Blau N, Heizmann CW, Sperl W, Korenke GC, Hoffmann GF, Smooker PM, Cotton RG.
    Pediatr Res; 1992 Dec 05; 32(6):726-30. PubMed ID: 1283784
    [Abstract] [Full Text] [Related]

  • 12. Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
    Matalon R, Michals-Matalon K, Koch R, Grady J, Tyring S, Stevens RC.
    Mol Genet Metab; 2005 Dec 05; 86 Suppl 1():S17-21. PubMed ID: 16143554
    [Abstract] [Full Text] [Related]

  • 13. Tetrahydrobiopterin and inherited hyperphenylalaninemias.
    Blau N, Thony B, Spada M, Ponzone A.
    Turk J Pediatr; 1996 Dec 05; 38(1):19-35. PubMed ID: 8819618
    [Abstract] [Full Text] [Related]

  • 14.
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  • 15. 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 Dec 05; 12(4):216-8. PubMed ID: 1289568
    [Abstract] [Full Text] [Related]

  • 16. Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria.
    Fiege B, Blau N.
    J Pediatr; 2007 Jun 05; 150(6):627-30. PubMed ID: 17517248
    [Abstract] [Full Text] [Related]

  • 17. [Development of the biosynthesis and excretion of pterins in phenylketonuria and its variants].
    Curtius HC, Niederwieser A.
    Arch Fr Pediatr; 1983 Jun 05; 40 Suppl 1():227-30. PubMed ID: 6349572
    [No Abstract] [Full Text] [Related]

  • 18. Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.
    Fiege B, Bonafé L, Ballhausen D, Baumgartner M, Thöny B, Meili D, Fiori L, Giovannini M, Blau N.
    Mol Genet Metab; 2005 Dec 05; 86 Suppl 1():S91-5. PubMed ID: 16290003
    [Abstract] [Full Text] [Related]

  • 19. Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.
    Trefz FK, Blau N.
    Pediatrics; 2003 Dec 05; 112(6 Pt 2):1566-9. PubMed ID: 14654666
    [Abstract] [Full Text] [Related]

  • 20. [An eighteen-year study on phenylketonuria].
    Yu WM, Xu L, Li XW, He C, Shen M, Zhang ZX, Jin YY, Zhou ZS, Qiao F.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2003 Apr 05; 25(2):218-22. PubMed ID: 12905726
    [Abstract] [Full Text] [Related]

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