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196 related items for PubMed ID: 7641731

  • 1. Ultrastructural, immunocytochemical and stereological investigation of hepatocytes in a patient with the mutation of the ornithine transcarbamylase gene.
    Zimmer KP, Matsuda I, Matsuura T, Mori M, Colombo JP, Fahimi HD, Koch HG, Ullrich K, Harms E.
    Eur J Cell Biol; 1995 May; 67(1):73-83. PubMed ID: 7641731
    [Abstract] [Full Text] [Related]

  • 2. Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency.
    Zimmer KP, Bendiks M, Mori M, Kominami E, Robinson MB, Ye X, Wilson JM.
    Mol Med; 1999 Apr; 5(4):244-53. PubMed ID: 10448647
    [Abstract] [Full Text] [Related]

  • 3. Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity.
    Hoshide R, Matsuura T, Sagara Y, Kubo T, Shimadzu M, Endo F, Matsuda I.
    Am J Med Genet; 1996 Aug 23; 64(3):459-64. PubMed ID: 8862622
    [Abstract] [Full Text] [Related]

  • 4. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
    Ogino W, Takeshima Y, Nishiyama A, Okizuka Y, Yagi M, Tsuneishi S, Saiki K, Kugo M, Matsuo M.
    Kobe J Med Sci; 2007 Aug 23; 53(5):229-40. PubMed ID: 18204299
    [Abstract] [Full Text] [Related]

  • 5. The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
    Matsuda I, Tanase S.
    Am J Med Genet; 1997 Sep 05; 71(4):378-83. PubMed ID: 9286441
    [Abstract] [Full Text] [Related]

  • 6. Carbamyl phosphate synthetase and ornithine transcarbamylase activities in enzyme-deficient human liver measured by radiochromatography and correlated with outcome.
    Tuchman M, Tsai MY, Holzknecht RA, Brusilow SW.
    Pediatr Res; 1989 Jul 05; 26(1):77-82. PubMed ID: 2771513
    [Abstract] [Full Text] [Related]

  • 7. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.
    Ausems MG, Bakker E, Berger R, Duran M, van Diggelen OP, Keulemans JL, de Valk HW, Kneppers AL, Dorland L, Eskes PF, Beemer FA, Poll-The BT, Smeitink JA.
    Am J Med Genet; 1997 Jan 20; 68(2):236-9. PubMed ID: 9028466
    [Abstract] [Full Text] [Related]

  • 8. Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.
    Giorgi M, Morrone A, Donati MA, Ciani F, Bardelli T, Biasucci G, Zammarchi E.
    Hum Mutat; 2000 Apr 20; 15(4):380-1. PubMed ID: 10737985
    [Abstract] [Full Text] [Related]

  • 9. Efficient adenoviral-mediated ornithine transcarbamylase expression in deficient mouse and human hepatocytes.
    Morsy MA, Alford EL, Bett A, Graham FL, Caskey CT.
    J Clin Invest; 1993 Sep 20; 92(3):1580-6. PubMed ID: 8376608
    [Abstract] [Full Text] [Related]

  • 10. [Intrasplenic transplantation of hepatocytes in spf-ash mice with congenital ornithine transcarbamylase deficiency].
    Michel JL, Rabier D, Rambaud C, Kamoun P, Brousse N, Vassault A, Pla M, Calise D, Revillon Y.
    Chirurgie; 1993 Sep 20; 119(10):666-71. PubMed ID: 7729184
    [Abstract] [Full Text] [Related]

  • 11. Immunochemical analysis of carbamyl phosphate synthetase I and ornithine transcarbamylase deficient livers: elevated N-acetylglutamate level in a liver lacking carbamyl phosphate synthetase protein.
    Zhang W, Holzknecht RA, Butkowski RJ, Tuchman M.
    Clin Invest Med; 1990 Aug 20; 13(4):183-8. PubMed ID: 2208834
    [Abstract] [Full Text] [Related]

  • 12. An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.
    Lee JT, Nussbaum RL.
    J Clin Invest; 1989 Dec 20; 84(6):1762-6. PubMed ID: 2556444
    [Abstract] [Full Text] [Related]

  • 13. Organellar clusters formed by mitochondrial-rough endoplasmic reticulum associations: an ordered arrangement of mitochondria in hepatocytes.
    Cascarano J, Chambers PA, Schwartz E, Poorkaj P, Gondo RE.
    Hepatology; 1995 Sep 20; 22(3):837-46. PubMed ID: 7657291
    [Abstract] [Full Text] [Related]

  • 14. Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.
    García-Pérez MA, Climent C, Briones P, Vilaseca MA, Rodés M, Rubio V.
    J Inherit Metab Dis; 1997 Nov 20; 20(6):769-77. PubMed ID: 9427144
    [Abstract] [Full Text] [Related]

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  • 16. Expression analysis of two mutant human ornithine transcarbamylases in COS-7 cells.
    Kogo T, Satoh Y, Kanazawa M, Yamamoto S, Takayanagi M, Ohtake A, Mori M, Niimi H.
    J Hum Genet; 1998 Nov 20; 43(1):54-8. PubMed ID: 9609999
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  • 18. Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency.
    Tuchman M, Matsuda I, Munnich A, Malcolm S, Strautnieks S, Briede T.
    Am J Med Genet; 1995 Jan 02; 55(1):67-70. PubMed ID: 7702100
    [Abstract] [Full Text] [Related]

  • 19. Studies of the cause and treatment of hyperammonemia in females with ornithine transcarbamylase deficiency.
    Glasgow AM, Kraegel JH, Schulman JD.
    Pediatrics; 1978 Jul 02; 62(1):30-7. PubMed ID: 683780
    [Abstract] [Full Text] [Related]

  • 20. Focal glycogenosis of the liver in disorders of ureagenesis: its occurrence and diagnostic significance.
    Badizadegan K, Perez-Atayde AR.
    Hepatology; 1997 Aug 02; 26(2):365-73. PubMed ID: 9252147
    [Abstract] [Full Text] [Related]

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