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Journal Abstract Search

174 related items for PubMed ID: 10924272

  • 1. 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; 70(3):179-88. PubMed ID: 10924272
    [Abstract] [Full Text] [Related]

  • 2. Activity of the bifunctional protein 4a-hydroxy-tetrahydropterin dehydratase/DCoH during human fetal development: correlation with dihydropteridine reductase activity and tetrahydrobiopterin levels.
    Rebrin I, Bailey SW, Ayling JE.
    Biochem Biophys Res Commun; 1995 Dec 26; 217(3):958-65. PubMed ID: 8554621
    [Abstract] [Full Text] [Related]

  • 3. Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).
    Thöny B, Neuheiser F, Kierat L, Blaskovics M, Arn PH, Ferreira P, Rebrin I, Ayling J, Blau N.
    Am J Hum Genet; 1998 Jun 26; 62(6):1302-11. PubMed ID: 9585615
    [Abstract] [Full Text] [Related]

  • 4. Stereospecificity and catalytic function of histidine residues in 4a-hydroxy-tetrahydropterin dehydratase/DCoH.
    Rebrin I, Thöny B, Bailey SW, Ayling JE.
    Biochemistry; 1998 Aug 11; 37(32):11246-54. PubMed ID: 9698371
    [Abstract] [Full Text] [Related]

  • 5. Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?
    Hevel JM, Stewart JA, Gross KL, Ayling JE.
    Mol Genet Metab; 2006 May 11; 88(1):38-46. PubMed ID: 16423549
    [Abstract] [Full Text] [Related]

  • 6. Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.
    Thöny B, Neuheiser F, Kierat L, Rolland MO, Guibaud P, Schlüter T, Germann R, Heidenreich RA, Duran M, de Klerk JB, Ayling JE, Blau N.
    Hum Genet; 1998 Aug 11; 103(2):162-7. PubMed ID: 9760199
    [Abstract] [Full Text] [Related]

  • 7. Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
    Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL, Davis MD.
    Am J Hum Genet; 1993 Sep 11; 53(3):768-74. PubMed ID: 8352282
    [Abstract] [Full Text] [Related]

  • 8. 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 11; 27(9):870-8. PubMed ID: 16917893
    [Abstract] [Full Text] [Related]

  • 9. Human white blood cells and hair follicles are good sources of mRNA for the pterin carbinolamine dehydratase/dimerization cofactor of HNF1 for mutation detection.
    Lei XD, Kaufman S.
    Biochem Biophys Res Commun; 1998 Jul 20; 248(2):432-5. PubMed ID: 9675155
    [Abstract] [Full Text] [Related]

  • 10. [Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients].
    Dhondt JL, Hayte JM.
    Ann Biol Clin (Paris); 2002 Jul 20; 60(2):165-71. PubMed ID: 11937441
    [Abstract] [Full Text] [Related]

  • 11. Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22.
    Thöny B, Heizmann CW, Mattei MG.
    Genomics; 1994 Jan 15; 19(2):365-8. PubMed ID: 8188266
    [Abstract] [Full Text] [Related]

  • 12. Catalytic characterization of 4a-hydroxytetrahydropterin dehydratase.
    Rebrin I, Bailey SW, Boerth SR, Ardell MD, Ayling JE.
    Biochemistry; 1995 May 02; 34(17):5801-10. PubMed ID: 7727440
    [Abstract] [Full Text] [Related]

  • 13. Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1.
    Lei XD, Kaufman S.
    DNA Cell Biol; 1999 Mar 02; 18(3):243-52. PubMed ID: 10098606
    [Abstract] [Full Text] [Related]

  • 14. Tetrahydrobiopterin and inherited hyperphenylalaninemias.
    Blau N, Thony B, Spada M, Ponzone A.
    Turk J Pediatr; 1996 Mar 02; 38(1):19-35. PubMed ID: 8819618
    [Abstract] [Full Text] [Related]

  • 15. Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia.
    Waters PJ, Scriver CR, Parniak MA.
    Mol Genet Metab; 2001 Jul 02; 73(3):230-8. PubMed ID: 11461190
    [Abstract] [Full Text] [Related]

  • 16. Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.
    Thöny B, Ding Z, Martínez A.
    FEBS Lett; 2004 Nov 19; 577(3):507-11. PubMed ID: 15556637
    [Abstract] [Full Text] [Related]

  • 17. Specific interaction of the diastereomers 7(R)- and 7(S)-tetrahydrobiopterin with phenylalanine hydroxylase: implications for understanding primapterinuria and vitiligo.
    Pey AL, Martinez A, Charubala R, Maitland DJ, Teigen K, Calvo A, Pfleiderer W, Wood JM, Schallreuter KU.
    FASEB J; 2006 Oct 19; 20(12):2130-2. PubMed ID: 16935936
    [Abstract] [Full Text] [Related]

  • 18. [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 19; 24(2):210-2. PubMed ID: 17407085
    [Abstract] [Full Text] [Related]

  • 19. 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 Apr 19; 16(1):54-60. PubMed ID: 10874306
    [Abstract] [Full Text] [Related]

  • 20. 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 19; 115(2):217-21. PubMed ID: 11940335
    [Abstract] [Full Text] [Related]

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