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Journal Abstract Search

268 related items for PubMed ID: 9222755

  • 1.
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  • 2. 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. Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.
    Blau N, Scherer-Oppliger T, Baumer A, Riegel M, Matasovic A, Schinzel A, Jaeken J, Thöny B.
    Hum Mutat; 2000 Sep; 16(1):54-60. PubMed ID: 10874306
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  • 5. [Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation].
    Ye J, Liu XQ, Qiu WJ, Han LS, Zhou JD, Zhang YF, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr; 24(2):210-2. PubMed ID: 17407085
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  • 6. Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
    Himmelreich N, Blau N, Thöny B.
    Mol Genet Metab; 2021 Jun; 133(2):123-136. PubMed ID: 33903016
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  • 7. Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
    Oppliger T, Thöny B, Kluge C, Matasovic A, Heizmann CW, Ponzone A, Spada M, Blau N.
    Hum Mutat; 1997 Jun; 10(1):25-35. PubMed ID: 9222757
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  • 9. 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 Jun; 74(1-2):172-85. PubMed ID: 11592814
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  • 10. 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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  • 12. Tetrahydrobiopterin metabolism and GTP cyclohydrolase I mutations in L-dopa-responsive dystonia.
    Bezin L, Anastasiadis PZ, Nygaard TG, Levine RA.
    Adv Neurol; 1998 May; 78():291-300. PubMed ID: 9750925
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  • 13. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
    Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A, French Dystonia Network.
    Brain; 2009 Jul; 132(Pt 7):1753-63. PubMed ID: 19491146
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  • 17. Tetrahydrobiopterin biosynthesis, regeneration and functions.
    Thöny B, Auerbach G, Blau N.
    Biochem J; 2000 Apr 01; 347 Pt 1(Pt 1):1-16. PubMed ID: 10727395
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  • 18. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
    Dhondt JL, Hayte JM.
    Ann Biol Clin (Paris); 2002 Apr 01; 60(2):165-71. PubMed ID: 11937441
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  • 20. Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
    Thöny B, Leimbacher W, Blau N, Harvie A, Heizmann CW.
    Am J Hum Genet; 1994 May 01; 54(5):782-92. PubMed ID: 8178819
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