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Journal Abstract Search

201 related items for PubMed ID: 17262046

  • 1. Novel mutation in OTC gene causes neonatal death in twin brothers.
    Nagy GR, Largiadèr CR, Nuoffer JM, Nagy B, Lázár L, Papp Z.
    J Perinatol; 2007 Feb; 27(2):123-4. PubMed ID: 17262046
    [Abstract] [Full Text] [Related]

  • 2. 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 Feb; 53(5):229-40. PubMed ID: 18204299
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  • 3. Fatal initial adult-onset presentation of urea cycle defect.
    Lien J, Nyhan WL, Barshop BA.
    Arch Neurol; 2007 Dec; 64(12):1777-9. PubMed ID: 18071043
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  • 5. In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.
    Suriano G, Azevedo L, Novais M, Boscolo B, Seruca R, Amorim A, Ghibaudi EM.
    Hum Mol Genet; 2007 Sep 15; 16(18):2209-14. PubMed ID: 17613537
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  • 6. Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
    Climent C, Rubio V.
    Hum Mutat; 2002 Feb 15; 19(2):185-6. PubMed ID: 11793483
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  • 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
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  • 8. A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy.
    Schimanski U, Krieger D, Horn M, Stremmel W, Wermuth B, Theilmann L.
    Hepatology; 1996 Dec 20; 24(6):1413-5. PubMed ID: 8938172
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  • 9. Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations.
    Tanaka A, Wada T, Maruyama M, Tanaka A, Takikawa H, Komatsu Y.
    J Gastroenterol; 2005 Jan 20; 40(1):106-7. PubMed ID: 15692798
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  • 10. Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid.
    Thakur V, Rupar CA, Ramsay DA, Singh R, Fraser DD.
    Pediatr Crit Care Med; 2006 May 20; 7(3):273-6. PubMed ID: 16575347
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  • 11. Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet.
    Ben-Ari Z, Dalal A, Morry A, Pitlik S, Zinger P, Cohen J, Fattal I, Galili-Mosberg R, Tessler D, Baruch RG, Nuoffer JM, Largiader CR, Mandel H.
    J Hepatol; 2010 Feb 20; 52(2):292-5. PubMed ID: 20031247
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  • 12. [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
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  • 15. Urea cycle disorders in Thai infants: a report of 5 cases.
    Wasant P, Srisomsap C, Liammongkolkul S, Svasti J.
    J Med Assoc Thai; 2002 Aug 20; 85 Suppl 2():S720-31. PubMed ID: 12403252
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  • 17. The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.
    Maestri NE, Lord C, Glynn M, Bale A, Brusilow SW.
    Medicine (Baltimore); 1998 Nov 20; 77(6):389-97. PubMed ID: 9854602
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  • 18. Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
    Climent C, García-Pérez MA, Sanjurjo P, Ruiz-Sanz JI, Vilaseca MA, Pineda M, Campistol J, Rubio V.
    Hum Mutat; 1999 Oct 20; 14(4):352-3. PubMed ID: 10502831
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  • 19. Management of ornithine transcarbamylase deficiency in pregnancy.
    Mendez-Figueroa H, Lamance K, Sutton VR, Aagaard-Tillery K, Van den Veyver I.
    Am J Perinatol; 2010 Nov 20; 27(10):775-84. PubMed ID: 20458665
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  • 20. Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene.
    Azevedo L, Climent C, Vilarinho L, Calafell F, Amorim A.
    Hum Mutat; 2004 Sep 20; 24(3):273. PubMed ID: 15300856
    [Abstract] [Full Text] [Related]

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