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Journal Abstract Search

141 related items for PubMed ID: 9452024

  • 41.
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  • 42. 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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  • 45. [Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].
    Sun WH, Yang Y, Zhang YP, Li XT, Zhang M, Cao Y, Wang Y.
    Zhonghua Er Ke Za Zhi; 2011 May; 49(5):356-60. PubMed ID: 21624287
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  • 47. 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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  • 48. DNA analysis for ornithine transcarbamylase deficiency.
    Rozen R, Fox JE, Hack AM, Fenton WA, Horwich AL, Rosenberg LE.
    J Inherit Metab Dis; 1986 Aug; 9 Suppl 1():49-57. PubMed ID: 2878115
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  • 51. 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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  • 54. Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.
    Finkelstein JE, Francomano CA, Brusilow SW, Traystman MD.
    Genomics; 1990 Jun; 7(2):167-72. PubMed ID: 2347583
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  • 55. Improved molecular diagnostics for ornithine transcarbamylase deficiency.
    Grompe M, Caskey CT, Fenwick RG.
    Am J Hum Genet; 1991 Feb; 48(2):212-22. PubMed ID: 1671317
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  • 56. Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
    Storkanova G, Vlaskova H, Chuzhanova N, Zeman J, Stranecky V, Majer F, Peskova K, Luksan O, Jirsa M, Hrebicek M, Dvorakova L.
    Clin Genet; 2013 Dec; 84(6):552-9. PubMed ID: 23278509
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  • 57. 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; 15(4):380-1. PubMed ID: 10737985
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  • 58. [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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  • 59. 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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  • 60. 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; 38(2):149-58. PubMed ID: 3004207
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