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Journal Abstract Search

309 related items for PubMed ID: 11238300

  • 1. Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
    Bonafé L, Thöny B, Leimbacher W, Kierat L, Blau N.
    Clin Chem; 2001 Mar; 47(3):477-85. PubMed ID: 11238300
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  • 8. Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency.
    Laufs S, Kim SH, Kim S, Blau N, Thöny B.
    J Gene Med; 2000 Mar; 2(1):22-31. PubMed ID: 10765502
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  • 9. Disorders of biopterin metabolism.
    Longo N.
    J Inherit Metab Dis; 2009 Jun; 32(3):333-42. PubMed ID: 19234759
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  • 14. Tetrahydrobiopterin biosynthesis defects examined in cytokine-stimulated fibroblasts.
    Milstien S, Kaufman S, Sakai N.
    J Inherit Metab Dis; 1993 Jun; 16(6):975-81. PubMed ID: 8127073
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  • 16. Activity of synthetic enzymes of tetrahydrobiopterin in the human placenta.
    Iwanaga N, Yamamasu S, Tachibana D, Nishio J, Nakai Y, Shintaku H, Ishiko O.
    Int J Mol Med; 2004 Jan; 13(1):117-20. PubMed ID: 14654981
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  • 17. Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia.
    Bezin L, Nygaard TG, Neville JD, Shen H, Levine RA.
    Neurology; 1998 Apr; 50(4):1021-7. PubMed ID: 9566389
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  • 18. Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients.
    Thöny B, Leimbacher W, Stuhlmann H, Heizmann CW, Blau N.
    Hum Gene Ther; 1996 Aug 20; 7(13):1587-93. PubMed ID: 8864759
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  • 19. Critical role of interleukin-1beta for transcriptional regulation of endothelial 6-pyruvoyltetrahydropterin synthase.
    Franscini N, Blau N, Walter RB, Schaffner A, Schoedon G.
    Arterioscler Thromb Vasc Biol; 2003 Nov 01; 23(11):e50-3. PubMed ID: 14551150
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  • 20. [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 01; 46(4):281-5. PubMed ID: 19099731
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