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Journal Abstract Search

157 related items for PubMed ID: 10874306

  • 21. Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.
    Liu TT, Chiang SH, Wu SJ, Hsiao KJ.
    Clin Chim Acta; 2001 Nov; 313(1-2):157-69. PubMed ID: 11694255
    [Abstract] [Full Text] [Related]

  • 22. 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; 160(5):267-76. PubMed ID: 11388593
    [Abstract] [Full Text] [Related]

  • 23. 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; 131(4):380-389. PubMed ID: 33234470
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients.
    Thöny B, Leimbacher W, Stuhlmann H, Heizmann CW, Blau N.
    Hum Gene Ther; 1996 Aug 20; 7(13):1587-93. PubMed ID: 8864759
    [Abstract] [Full Text] [Related]

  • 26. A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.
    Ashida A, Owada M, Hatakeyama K.
    Genomics; 1994 Nov 15; 24(2):408-10. PubMed ID: 7698774
    [No Abstract] [Full Text] [Related]

  • 27. Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
    Dianzani I, de Sanctis L, Smooker PM, Gough TJ, Alliaudi C, Brusco A, Spada M, Blau N, Dobos M, Zhang HP, Yang N, Ponzone A, Armarego WL, Cotton RG.
    Hum Mutat; 1998 Nov 15; 12(4):267-73. PubMed ID: 9744478
    [Abstract] [Full Text] [Related]

  • 28. 6-pyruvoyltetrahydropterin synthase deficiency two-case report.
    Pangkanon S, Charoensiriwatanamsc W, Liamsuwanmd S.
    J Med Assoc Thai; 2006 Jun 15; 89(6):872-7. PubMed ID: 16850690
    [Abstract] [Full Text] [Related]

  • 29. Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency.
    Shintaku H, Asada M, Sawada Y.
    Brain Dev; 2000 Sep 15; 22 Suppl 1():S118-21. PubMed ID: 10984672
    [Abstract] [Full Text] [Related]

  • 30. 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 15; 58(1):164-7. PubMed ID: 15984017
    [Abstract] [Full Text] [Related]

  • 31. [Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients].
    Qu YJ, Song F, Wang H, Jin YW.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Dec 15; 23(6):680-2. PubMed ID: 17160954
    [Abstract] [Full Text] [Related]

  • 32. Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies.
    Ayling JE, Bailey SW, Boerth SR, Giugliani R, Braegger CP, Thöny B, Blau N.
    Mol Genet Metab; 2000 Jul 15; 70(3):179-88. PubMed ID: 10924272
    [Abstract] [Full Text] [Related]

  • 33. Decreased plasma tetrahydrobiopterin in pregnant women is caused by impaired 6-pyruvoyl tetrahydropterin synthase activity.
    Tachibana D, Fukumasu H, Shintaku H, Fukumasu Y, Yamamasu S, Ishiko O, Yamano T, Ogita S.
    Int J Mol Med; 2002 Jan 15; 9(1):49-52. PubMed ID: 11744995
    [Abstract] [Full Text] [Related]

  • 34. Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene.
    Turri MO, Ilg EC, Thöny B, Blau N.
    Biol Chem; 1998 Dec 15; 379(12):1441-7. PubMed ID: 9894812
    [Abstract] [Full Text] [Related]

  • 35. Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency.
    Laufs S, Kim SH, Kim S, Blau N, Thöny B.
    J Gene Med; 2000 Dec 15; 2(1):22-31. PubMed ID: 10765502
    [Abstract] [Full Text] [Related]

  • 36. [The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency].
    Ye J, Qiu WJ, Han LS, Zhou JD, Gao XL, Gu XF.
    Zhonghua Yu Fang Yi Xue Za Zhi; 2009 Feb 15; 43(2):128-31. PubMed ID: 19534905
    [Abstract] [Full Text] [Related]

  • 37. [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 15; 24(2):210-2. PubMed ID: 17407085
    [Abstract] [Full Text] [Related]

  • 38. 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 15; 93(3):295-305. PubMed ID: 18060820
    [Abstract] [Full Text] [Related]

  • 39. Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.
    Korner G, Scherer T, Adamsen D, Rebuffat A, Crabtree M, Rassi A, Scavelli R, Homma D, Ledermann B, Konrad D, Ichinose H, Wolfrum C, Horsch M, Rathkolb B, Klingenspor M, Beckers J, Wolf E, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Blau N, Rozman J, Thöny B.
    J Inherit Metab Dis; 2016 Mar 15; 39(2):309-19. PubMed ID: 26830550
    [Abstract] [Full Text] [Related]

  • 40. Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.
    Romstad A, Guldberg P, Blau N, Güttler F.
    Clin Chem; 1999 Dec 15; 45(12):2102-8. PubMed ID: 10585341
    [Abstract] [Full Text] [Related]

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