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Journal Abstract Search

316 related items for PubMed ID: 23622404

  • 21. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
    Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N.
    Mol Genet Metab; 2019 May; 127(1):12-22. PubMed ID: 30952622
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  • 22. [GTP cyclohydrolase 1-deficient dopa-responsive hereditary dystonia].
    Teva Galán MD, Esteban Cantó V, Picó Alfonso N, Jover Cerdá J.
    An Pediatr (Barc); 2011 Jul; 75(1):55-7. PubMed ID: 21429827
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  • 23. Aromatic L-amino acid decarboxylase deficiency in Taiwan.
    Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ.
    Eur J Paediatr Neurol; 2009 Mar; 13(2):135-40. PubMed ID: 18567514
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  • 24. Tetrahydrobiopterin: biochemistry and pathophysiology.
    Werner ER, Blau N, Thöny B.
    Biochem J; 2011 Sep 15; 438(3):397-414. PubMed ID: 21867484
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  • 28. Dopa-responsive dystonia--clinical and genetic heterogeneity.
    Wijemanne S, Jankovic J.
    Nat Rev Neurol; 2015 Jul 15; 11(7):414-24. PubMed ID: 26100751
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  • 29. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).
    Segawa M.
    Chang Gung Med J; 2009 Jul 15; 32(1):1-11. PubMed ID: 19292934
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  • 31. Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.
    Cherian A, Paramasivan NK, Divya KP.
    Acta Neurol Belg; 2021 Jun 15; 121(3):613-623. PubMed ID: 33453040
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  • 32. Tetrahydrobiopterin and biogenic amine metabolism in the hph-1 mouse.
    Hyland K, Gunasekera RS, Engle T, Arnold LA.
    J Neurochem; 1996 Aug 15; 67(2):752-9. PubMed ID: 8764604
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  • 38. Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
    Thöny B, Blau N.
    Hum Mutat; 1997 Aug 15; 10(1):11-20. PubMed ID: 9222755
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  • 39. Genetics and molecular biology of hypotension.
    Robertson D.
    Curr Opin Nephrol Hypertens; 1994 Jan 15; 3(1):13-24. PubMed ID: 7850407
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  • 40. Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.
    Dhondt JL, Tilmont P, Ringel J, Farriaux JP.
    J Inherit Metab Dis; 1990 Jan 15; 13(6):879-82. PubMed ID: 2079836
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