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Journal Abstract Search

232 related items for PubMed ID: 9048915

  • 1. The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients.
    Nishiyori A, Yoshino M, Kato H, Matsuura T, Hoshide R, Matsuda I, Kuno T, Miyazaki S, Hirose S, Kuromaru R, Mori M.
    Hum Genet; 1997 Feb; 99(2):171-6. PubMed ID: 9048915
    [Abstract] [Full Text] [Related]

  • 2. Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.
    Matsuda I, Matsuura T, Nishiyori A, Komaki S, Hoshide R, Matsumoto T, Funakoshi M, Kiwaki K, Endo F, Hata A, Shimadzu M, Yoshino M.
    J Med Genet; 1996 Aug; 33(8):645-8. PubMed ID: 8863155
    [Abstract] [Full Text] [Related]

  • 3. Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients.
    Numata S, Harada E, Maeno Y, Ueki I, Watanabe Y, Fujii C, Yanagawa T, Takenaka S, Inoue T, Inoue S, Goushi T, Yasutake T, Mizuta T, Yoshino M.
    J Hum Genet; 2008 Aug; 53(1):10-17. PubMed ID: 18030415
    [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; 53(5):229-40. PubMed ID: 18204299
    [Abstract] [Full Text] [Related]

  • 5. 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 Aug; 43(1):54-8. PubMed ID: 9609999
    [Abstract] [Full Text] [Related]

  • 6. OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
    Lee JH, Kim GH, Yoo HW, Cheon CK.
    Pediatr Neurol; 2014 Sep; 51(3):354-359.e1. PubMed ID: 25011434
    [Abstract] [Full Text] [Related]

  • 7. Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.
    McCullough BA, Yudkoff M, Batshaw ML, Wilson JM, Raper SE, Tuchman M.
    Am J Med Genet; 2000 Aug 14; 93(4):313-9. PubMed ID: 10946359
    [Abstract] [Full Text] [Related]

  • 8. Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation.
    van Diggelen OP, Zaremba J, He W, Keulemans JL, Boer AM, Reuser AJ, Ausems MG, Smeitink JA, Kowalczyk J, Pronicka E, Rokicki D, Tarnowska-Dziduszko E, Kneppers AL, Bakker E.
    Clin Genet; 1996 Nov 14; 50(5):310-6. PubMed ID: 9007316
    [Abstract] [Full Text] [Related]

  • 9. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
    Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM.
    J Inherit Metab Dis; 1998 Nov 14; 21 Suppl 1():40-58. PubMed ID: 9686344
    [Abstract] [Full Text] [Related]

  • 10. Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
    Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H.
    J Genet Genomics; 2015 May 20; 42(5):181-94. PubMed ID: 26059767
    [Abstract] [Full Text] [Related]

  • 11. Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.
    Kim GH, Choi JH, Lee HH, Park S, Kim SS, Yoo HW.
    Hum Mutat; 2006 Nov 20; 27(11):1159. PubMed ID: 17041896
    [Abstract] [Full Text] [Related]

  • 12. Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency.
    Komaki S, Matsuura T, Oyanagi K, Hoshide R, Kiwaki K, Endo F, Shimadzu M, Matsuda I.
    Am J Med Genet; 1997 Mar 17; 69(2):177-81. PubMed ID: 9056557
    [Abstract] [Full Text] [Related]

  • 13. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
    Yoo HW, Kim GH, Lee DH.
    J Inherit Metab Dis; 1996 Mar 17; 19(1):31-42. PubMed ID: 8830175
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. [Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].
    Gao H, Li W, Yan ZH, Jiang MH, Rui DR, He YS.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb 20; 20(1):19-22. PubMed ID: 12579493
    [Abstract] [Full Text] [Related]

  • 16. New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
    Nussbaum RL, Boggs BA, Beaudet AL, Doyle S, Potter JL, O'Brien WE.
    Am J Hum Genet; 1986 Feb 20; 38(2):149-58. PubMed ID: 3004207
    [Abstract] [Full Text] [Related]

  • 17. 'Late onset' ornithine transcarbamylase deficiency: function of three purified recombinant mutant enzymes.
    Morizono H, Listrom CD, Rajagopal BS, Aoyagi M, McCann MT, Allewell NM, Tuchman M.
    Hum Mol Genet; 1997 Jun 20; 6(6):963-8. PubMed ID: 9175746
    [Abstract] [Full Text] [Related]

  • 18. Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon.
    Ploechl E, Ploechl W, Stoeckler-Ipsiroglu S, Pokorny H, Wermuth B.
    Clin Genet; 2001 Feb 20; 59(2):111-4. PubMed ID: 11260212
    [Abstract] [Full Text] [Related]

  • 19. Early intervention for late-onset ornithine transcarbamylase deficiency.
    Fujisawa D, Mitsubuchi H, Matsumoto S, Iwai M, Nakamura K, Hoshide R, Harada N, Yoshino M, Endo F.
    Pediatr Int; 2015 Feb 20; 57(1):e1-3. PubMed ID: 25711267
    [Abstract] [Full Text] [Related]

  • 20. Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency.
    Li S, Cai Y, Shi C, Liu M, Liu B, Lin L, Xiao X, Hao H.
    Med Sci Monit; 2018 Oct 18; 24():7431-7437. PubMed ID: 30333473
    [Abstract] [Full Text] [Related]

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