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324 related items for PubMed ID: 17590551

  • 1. A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels.
    Ogawa A, Kanazawa M, Takayanagi M, Kitani Y, Shintaku H, Kohno Y.
    Brain Dev; 2008 Jan; 30(1):82-5. PubMed ID: 17590551
    [Abstract] [Full Text] [Related]

  • 2. Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency.
    Porta F, Mussa A, Concolino D, Spada M, Ponzone A.
    Neurology; 2009 Aug 25; 73(8):633-7. PubMed ID: 19704083
    [Abstract] [Full Text] [Related]

  • 3. Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.
    Ye J, Liu X, Ma X, Zhang Y, Huang X, Chen R, Gu X.
    Chin Med J (Engl); 2002 Feb 25; 115(2):217-21. PubMed ID: 11940335
    [Abstract] [Full Text] [Related]

  • 4. Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl.
    Birnbacher R, Scheibenreiter S, Blau N, Bieglmayer C, Frisch H, Waldhauser F.
    Pediatr Res; 1998 Apr 25; 43(4 Pt 1):472-7. PubMed ID: 9545000
    [Abstract] [Full Text] [Related]

  • 5. Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterin.
    McInnes RR, Kaufman S, Warsh JJ, Van Loon GR, Milstien S, Kapatos G, Soldin S, Walsh P, MacGregor D, Hanley WB.
    J Clin Invest; 1984 Feb 25; 73(2):458-69. PubMed ID: 6142058
    [Abstract] [Full Text] [Related]

  • 6. Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
    Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M, Longo N.
    Mol Genet Metab; 2020 Dec 25; 131(4):380-389. PubMed ID: 33234470
    [Abstract] [Full Text] [Related]

  • 7. 6-pyruvoyl tetrahydropterin synthase deficiency: a case report.
    Capistrano-Estrada SB, Nyhan WL.
    Southeast Asian J Trop Med Public Health; 2003 Dec 25; 34 Suppl 3():186-8. PubMed ID: 15906733
    [Abstract] [Full Text] [Related]

  • 8. Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan.
    Niu DM.
    Brain Dev; 2011 Nov 25; 33(10):847-55. PubMed ID: 21880449
    [Abstract] [Full Text] [Related]

  • 9. Dopamine agonists in dihydropteridine reductase deficiency.
    Porta F, Mussa A, Concolino D, Spada M, Ponzone A.
    Mol Genet Metab; 2012 Apr 25; 105(4):582-4. PubMed ID: 22325981
    [Abstract] [Full Text] [Related]

  • 10. Loss of central nervous system component of dopaminergic inhibition of prolactin secretion in patients with prolactin-secreting pituitary tumors.
    Fine SA, Frohman LA.
    J Clin Invest; 1978 Apr 25; 61(4):973-80. PubMed ID: 659585
    [Abstract] [Full Text] [Related]

  • 11. Response of 6-pyruvoyl-tetrahydropterin synthase deficiency to tetrahydrobiopterin.
    al Aqeel A, Ozand PT, Gascon GG, Hughes H, Reynolds CT, Subramanyam SB.
    J Child Neurol; 1992 Apr 25; 7 Suppl():S26-30. PubMed ID: 1588012
    [Abstract] [Full Text] [Related]

  • 12. [Screening for 6-pyruvoyl-tetrahydrobiopterin synthase (PTPS) deficiency: clinical analysis of 9 patients with PTPS deficiency].
    Ye J, Liu X, Huang X.
    Zhonghua Yi Xue Za Zhi; 2000 Jul 25; 80(7):513-5. PubMed ID: 11798810
    [Abstract] [Full Text] [Related]

  • 13. Malignant phenylketonuria due to defective synthesis of dihydrobiopterin.
    Cohen BE, Szeinberg A, Quint J, Normand M, Blonder J, Peled I.
    Isr J Med Sci; 1985 Jun 25; 21(6):520-5. PubMed ID: 3874852
    [Abstract] [Full Text] [Related]

  • 14. [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 25; 46(4):281-5. PubMed ID: 19099731
    [Abstract] [Full Text] [Related]

  • 15. 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
    Demos MK, Waters PJ, Vallance HD, Lillquist Y, Makhseed N, Hyland K, Blau N, Connolly MB.
    Ann Neurol; 2005 Jul 25; 58(1):164-7. PubMed ID: 15984017
    [Abstract] [Full Text] [Related]

  • 16. The effect of carbidopa on plasma and muscle levels of L-dopa, dopamine, and their metabolites following L-dopa administration to rats.
    Rose S, Jenner P, Marsden CD.
    Mov Disord; 1988 Jul 25; 3(2):117-25. PubMed ID: 3221899
    [Abstract] [Full Text] [Related]

  • 17. [Studies on neonatal screening, clinical and gene analysis for tetrahydrobiopterin deficiency in Southern Chinese].
    Ye J, Liu X, Ma X, Huang X, Zhang Y, Gu X, Chen R.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Apr 25; 18(2):92-5. PubMed ID: 11295124
    [Abstract] [Full Text] [Related]

  • 18. Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Shintaku H, Asada M, Sawada Y.
    Brain Dev; 2000 Sep 25; 22 Suppl 1():S118-21. PubMed ID: 10984672
    [Abstract] [Full Text] [Related]

  • 19. Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Dudesek A, Röschinger W, Muntau AC, Seidel J, Leupold D, Thöny B, Blau N.
    Eur J Pediatr; 2001 May 25; 160(5):267-76. PubMed ID: 11388593
    [Abstract] [Full Text] [Related]

  • 20. Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
    Jäggi L, Zurflüh MR, Schuler A, Ponzone A, Porta F, Fiori L, Giovannini M, Santer R, Hoffmann GF, Ibel H, Wendel U, Ballhausen D, Baumgartner MR, Blau N.
    Mol Genet Metab; 2008 Mar 25; 93(3):295-305. PubMed ID: 18060820
    [Abstract] [Full Text] [Related]

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