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Journal Abstract Search

537 related items for PubMed ID: 11592814

  • 1. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.
    Blau N, Bonafé L, Thöny B.
    Mol Genet Metab; 2001; 74(1-2):172-85. PubMed ID: 11592814
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  • 2. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
    Abeling NG, Duran M, Bakker HD, Stroomer L, Thöny B, Blau N, Booij J, Poll-The BT.
    Mol Genet Metab; 2006; 89(1-2):116-20. PubMed ID: 16650784
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  • 3. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
    Thöny B, Blau N.
    Hum Mutat; 2006 Sep; 27(9):870-8. PubMed ID: 16917893
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  • 4. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan; 46(1):19-34. PubMed ID: 16541791
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  • 9. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
    Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N.
    Am J Hum Genet; 2001 Aug; 69(2):269-77. PubMed ID: 11443547
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  • 11. Tetrahydrobiopterin and inherited hyperphenylalaninemias.
    Blau N, Thony B, Spada M, Ponzone A.
    Turk J Pediatr; 1996 Aug; 38(1):19-35. PubMed ID: 8819618
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  • 12. 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
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  • 15. GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia.
    Furukawa Y, Shimadzu M, Rajput AH, Shimizu Y, Tagawa T, Mori H, Yokochi M, Narabayashi H, Hornykiewicz O, Mizuno Y, Kish SJ.
    Ann Neurol; 1996 May; 39(5):609-17. PubMed ID: 8619546
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  • 16. Disorders of biopterin metabolism.
    Longo N.
    J Inherit Metab Dis; 2009 Jun; 32(3):333-42. PubMed ID: 19234759
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  • 18. Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia.
    Coşkun T, Karagöz T, Kalkanoğlu S, Tokatli A, Ozalp I, Thöny B, Blau N.
    Turk J Pediatr; 1999 Jun; 41(2):231-7. PubMed ID: 10770663
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