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242 related items for PubMed ID: 15692798

  • 1. 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; 40(1):106-7. PubMed ID: 15692798
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  • 3. Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations.
    Gao J, Gao F, Hong F, Yu H, Jiang P.
    Am J Emerg Med; 2015 Mar; 33(3):474.e1-3. PubMed ID: 25227973
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  • 5. 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; 19(2):185-6. PubMed ID: 11793483
    [Abstract] [Full Text] [Related]

  • 6. 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; 52(2):292-5. PubMed ID: 20031247
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  • 7. 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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  • 9. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG.
    Hum Mutat; 2002 Feb; 19(2):93-107. PubMed ID: 11793468
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  • 10. 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
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  • 11. Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids.
    Lipskind S, Loanzon S, Simi E, Ouyang DW.
    J Perinatol; 2011 Oct; 31(10):682-4. PubMed ID: 21956151
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  • 12. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
    Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M.
    Hum Mutat; 2006 Jul; 27(7):626-32. PubMed ID: 16786505
    [Abstract] [Full Text] [Related]

  • 13. A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
    Mohamed S, Hamad MH, Kondkar AA, Abu-Amero KK.
    Saudi Med J; 2015 Oct; 36(10):1229-32. PubMed ID: 26446336
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  • 14. Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene.
    Valik D, Sedova Z, Starha J, Zeman J, Hruba E, Dvorakova L.
    Acta Paediatr; 2004 May; 93(5):710-1. PubMed ID: 15174800
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  • 15. Ornithine transcarbamylase deficiency presenting as hepatitis.
    Aronson PL, Mistry RD.
    Pediatr Emerg Care; 2011 Jun; 27(6):527-9. PubMed ID: 21642786
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  • 16. Novel human pathological mutations. Gene symbol: OTC. Disease: ornithine transcarbamylase deficiency.
    Lin HY, Lin HY, Lin SP.
    Hum Genet; 2010 Apr; 127(4):475. PubMed ID: 21488237
    [No Abstract] [Full Text] [Related]

  • 17. [Analysis of clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency].
    Wang Y, Liu X, Wu H, Liu H, Wang C, He X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):148-51. PubMed ID: 24711021
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  • 18. Intermittent hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency.
    Gulati S, Menon S, Kabra M, Kalra V.
    Indian J Pediatr; 2004 Jul; 71(7):645-7. PubMed ID: 15280615
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  • 19. [Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency].
    Meng LL, Jiang T, Qin L, Ma DY, Chen YL, Han SP, Yu ZB, Guo XR, Hu P, Xu ZF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr; 30(2):195-8. PubMed ID: 23568734
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  • 20. Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency.
    Panlaqui OM, Tran K, Johns A, McGill J, White H.
    Intensive Care Med; 2008 Oct; 34(10):1922-4. PubMed ID: 18651132
    [Abstract] [Full Text] [Related]

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