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Journal Abstract Search

176 related items for PubMed ID: 3308467

  • 21.
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  • 22. Ornithine transcarbamylase deficiency in male adolescence and adulthood.
    Yoshino M, Nishiyori J, Yamashita F, Kumashiro R, Abe H, Tanikawa K, Ohno T, Nakao K, Kaku N, Fukushima H.
    Enzyme; 1990; 43(3):160-8. PubMed ID: 2095337
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  • 23. Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.
    Legius E, Baten E, Stul M, Marynen P, Cassiman JJ.
    Clin Genet; 1990 Aug; 38(2):155-9. PubMed ID: 2208768
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  • 27. Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency.
    Becroft DM, Barry DM, Webster DR, Simmonds HA.
    J Inherit Metab Dis; 1984 Aug; 7(4):157-9. PubMed ID: 6441862
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  • 31. Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.
    Segues B, Rozet JM, Gilbert B, Saugier-Veber P, Rabier D, Saudubray JM, Carré M, Rouleau FP, Menget A, Bonardi JM.
    Prenat Diagn; 1995 Aug; 15(8):757-61. PubMed ID: 7479595
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  • 32. Family studies in ornithine transcarbamylase deficiency.
    Svirklys LG, Wilcken B, Hammond J, Mackinlay AG, O'Sullivan WJ.
    Arch Dis Child; 1988 Mar; 63(3):297-302. PubMed ID: 3355210
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  • 35. Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency.
    Bowling F, McGown I, McGill J, Cowley D, Tuchman M.
    Am J Med Genet; 1999 Aug 27; 85(5):452-4. PubMed ID: 10405441
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  • 36. Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein.
    Saheki T, Imamura Y, Inoue I, Miura S, Mori M, Ohtake A, Tatibana M, Katsumata N, Ohno T.
    J Inherit Metab Dis; 1984 Aug 27; 7(1):2-8. PubMed ID: 6429436
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  • 37. Restoration of hepatic cytochrome c oxidase activity and expression with acetyl-L-carnitine treatment in spf mice with an ornithine transcarbamylase deficiency.
    Mawal YR, Rama Rao KV, Qureshi IA.
    Biochem Pharmacol; 1998 Jun 01; 55(11):1853-60. PubMed ID: 9714304
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  • 38. Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers.
    Summar ML.
    J Inherit Metab Dis; 1998 Jun 01; 21 Suppl 1():30-9. PubMed ID: 9686343
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  • 39. Urea cycle defect: a case with MR and CT findings resembling infarct.
    Mamourian AC, du Plessis A.
    Pediatr Radiol; 1991 Jun 01; 21(8):594-5. PubMed ID: 1815186
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  • 40. [An adult case of familial ornithine transcarbamylase deficiency].
    Shimizu J, Yamakado M, Takeuchi H, Tagawa K, Unuma T, Kiyose H.
    Nihon Naika Gakkai Zasshi; 1988 Dec 01; 77(12):1868-72. PubMed ID: 3250992
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