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PUBMED FOR HANDHELDS

Journal Abstract Search

319 related items for PubMed ID: 678030

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  • 2. Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.
    Ahrens MJ, Berry SA, Whitley CB, Markowitz DJ, Plante RJ, Tuchman M.
    Am J Med Genet; 1996 Dec 18; 66(3):311-5. PubMed ID: 8985493
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  • 5. Seven new mutations in the human ornithine transcarbamylase gene.
    Tuchman M, Plante RJ, McCann MT, Qureshi AA.
    Hum Mutat; 1994 Dec 18; 4(1):57-60. PubMed ID: 7951259
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  • 7. Carrier detection of urea cycle disorders.
    Ng WG, Oizumi J, Koch R, Shaw KN, McLaren J, Donnel GN, Carter M.
    Pediatrics; 1981 Sep 18; 68(3):448-52. PubMed ID: 7279481
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  • 9. Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.
    Short EM, Conn HO, Snodgrass PJ, Campbell AG, Rosenberg LE.
    N Engl J Med; 1973 Jan 04; 288(1):7-12. PubMed ID: 4681915
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  • 13. [Changes of urinary excretion of orotic acid in a patient with ornithine carbamyl transferase deficiency].
    Sakane Y, Sugimoto T.
    Rinsho Byori; 1982 May 04; 30(5):547-50. PubMed ID: 7131821
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  • 14. A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.
    Demmer LA, Kim JM, de Martinville B, Dowton SB.
    Hum Mutat; 1996 May 04; 7(3):279. PubMed ID: 8829665
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  • 15. Spontaneous animal models of ornithine transcarbamylase deficiency: studies on serum and urinary nitrogenous metabolites.
    Qureshi IA, Letarte J, Ouellet R.
    Adv Exp Med Biol; 1982 May 04; 153():173-83. PubMed ID: 7164896
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  • 16. [Variability of enzyme activity and urinary orotic acid in ornithine transcarbamylase deficient spf/+ heterozygotic mice].
    Qureshi IA, Letarte J, Lebel S, Ouellet R.
    Diabete Metab; 1986 Oct 04; 12(5):250-5. PubMed ID: 3803679
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  • 17. 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 04; 14(4):352-3. PubMed ID: 10502831
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  • 19. Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity.
    Hoshide R, Matsuura T, Sagara Y, Kubo T, Shimadzu M, Endo F, Matsuda I.
    Am J Med Genet; 1996 Aug 23; 64(3):459-64. PubMed ID: 8862622
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