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Journal Abstract Search

290 related items for PubMed ID: 11443547

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  • 4. [Biopterin and child neurologic disease].
    Shintaku H.
    No To Hattatsu; 2009 Jan; 41(1):5-10. PubMed ID: 19172809
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  • 5. 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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  • 9. 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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  • 10. A murine model for human sepiapterin-reductase deficiency.
    Yang S, Lee YJ, Kim JM, Park S, Peris J, Laipis P, Park YS, Chung JH, Oh SP.
    Am J Hum Genet; 2006 Apr; 78(4):575-87. PubMed ID: 16532389
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  • 11. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.
    Opladen T, Hoffmann GF, Blau N.
    J Inherit Metab Dis; 2012 Nov; 35(6):963-73. PubMed ID: 22729819
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  • 12. Two Greek siblings with sepiapterin reductase deficiency.
    Verbeek MM, Willemsen MAAP, Wevers RA, Lagerwerf AJ, Abeling NGGM, Blau N, Thöny B, Vargiami E, Zafeiriou DI.
    Mol Genet Metab; 2008 Aug; 94(4):403-409. PubMed ID: 18502672
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  • 13. 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 Aug; 89(1-2):116-20. PubMed ID: 16650784
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  • 14. High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU).
    Winn SR, Scherer T, Thöny B, Harding CO.
    Mol Genet Metab; 2016 Jan; 117(1):5-11. PubMed ID: 26653793
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  • 16. GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.
    Niederwieser A, Blau N, Wang M, Joller P, Atarés M, Cardesa-Garcia J.
    Eur J Pediatr; 1984 Feb; 141(4):208-14. PubMed ID: 6734669
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  • 18. 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 Feb; 16(1):54-60. PubMed ID: 10874306
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