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Journal Abstract Search

119 related items for PubMed ID: 9452049

  • 21. Late onset ornithine transcarbamylase deficiency: a case report.
    Fessatou S, Garoufi A, Tsapra H, Maropoulos G, Michelakakis H, Schulpis K.
    Pediatr Pathol Mol Med; 2003; 22(2):153-7. PubMed ID: 12556295
    [Abstract] [Full Text] [Related]

  • 22. Identification of four novel splice site mutations in the ornithine transcarbamylase gene.
    Oppliger Leibundgut E, Wermuth B, Colombo JP, Liechti-Gallati S.
    Hum Genet; 1996 Feb; 97(2):209-13. PubMed ID: 8566955
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  • 24. Ornithine transcarbamylase deficiency in pregnancy.
    Cordero DR, Baker J, Dorinzi D, Toffle R.
    J Inherit Metab Dis; 2005 Feb; 28(2):237-40. PubMed ID: 15877212
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  • 25. A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.
    Zimmer KP, Matsuura T, Colombo JP, Koch HG, Ullrich K, Deufel T, Harms E, Matsuda I.
    J Inherit Metab Dis; 1995 Feb; 18(3):356-7. PubMed ID: 7474905
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  • 26. 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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  • 28. Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.
    Slomski R, Braulke I, Behrend C, Schröder E, Colombo JP, Reiss J.
    Hum Genet; 1992 Aug; 89(6):632-4. PubMed ID: 1511981
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  • 30. Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.
    Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM.
    J Inherit Metab Dis; 1997 Aug; 20(4):525-7. PubMed ID: 9266388
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  • 32. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
    Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM.
    J Inherit Metab Dis; 1998 Aug; 21 Suppl 1():40-58. PubMed ID: 9686344
    [Abstract] [Full Text] [Related]

  • 33. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
    Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, Cheon CK, Ko JM, Lee JH, Yoo HW.
    J Hum Genet; 2015 Sep; 60(9):501-7. PubMed ID: 25994866
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  • 34. Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.
    Shao Y, Jiang M, Lin Y, Mei H, Zhang W, Cai Y, Su X, Hu H, Li X, Liu L.
    Clin Genet; 2017 Sep; 92(3):318-322. PubMed ID: 28266016
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  • 36. The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.
    Tuchman M, Morizono H, Reish O, Yuan X, Allewell NM.
    J Med Genet; 1995 Sep; 32(9):680-8. PubMed ID: 8544185
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  • 37. Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.
    Maddalena A, Sosnoski DM, Berry GT, Nussbaum RL.
    N Engl J Med; 1988 Oct 13; 319(15):999-1003. PubMed ID: 2843770
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  • 38. 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
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  • 39. Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.
    Hartung B, Temme O, Neuen-Jacob E, Ritz-Timme S, Hinderhofer K, Daldrup T.
    Int J Legal Med; 2016 May 14; 130(3):783-5. PubMed ID: 26753873
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  • 40. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
    Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A.
    Hum Genet; 1991 Dec 14; 88(2):153-6. PubMed ID: 1721894
    [Abstract] [Full Text] [Related]

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