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Journal Abstract Search

118 related items for PubMed ID: 2678891

  • 21. Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
    Musalkova D, Sticova E, Reboun M, Sokolova J, Krijt J, Honzikova J, Gurka J, Neroldova M, Honzik T, Zeman J, Jirsa M, Dvorakova L, Hrebicek M.
    Virchows Arch; 2018 Jun; 472(6):1029-1039. PubMed ID: 29623395
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  • 25. The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients.
    Nishiyori A, Yoshino M, Kato H, Matsuura T, Hoshide R, Matsuda I, Kuno T, Miyazaki S, Hirose S, Kuromaru R, Mori M.
    Hum Genet; 1997 Feb; 99(2):171-6. PubMed ID: 9048915
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  • 29. 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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  • 31. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.
    Ausems MG, Bakker E, Berger R, Duran M, van Diggelen OP, Keulemans JL, de Valk HW, Kneppers AL, Dorland L, Eskes PF, Beemer FA, Poll-The BT, Smeitink JA.
    Am J Med Genet; 1997 Jan 20; 68(2):236-9. PubMed ID: 9028466
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  • 32. Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
    Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H.
    J Genet Genomics; 2015 May 20; 42(5):181-94. PubMed ID: 26059767
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  • 33. Import of carbamylphosphate synthetase and ornithine transcarbamylase into mitochondria of rat liver: detection of aggregates of enzyme in cytoplasm and mitochondria using immunoelectron microscopy with the protein A-gold method.
    Brands R, Hoogenraad N.
    Aust J Exp Biol Med Sci; 1986 Apr 20; 64 ( Pt 2)():165-73. PubMed ID: 3527129
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  • 35. Ultrastructural abnormalities of liver cells in Reye's syndrome.
    Iancu TC, Mason WH, Neustein HB.
    Hum Pathol; 1977 Jul 20; 8(4):421-31. PubMed ID: 892794
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  • 36. Expression of ornithine transcarbamylase deficiency in the small intestine and colon of sparse-fur mutant mice.
    Qureshi IA, Letarte J, Ouellet R.
    J Pediatr Gastroenterol Nutr; 1985 Feb 20; 4(1):118-24. PubMed ID: 3981356
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  • 38. 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 20; 89(6):632-4. PubMed ID: 1511981
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  • 39. Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors.
    Rahayatri TH, Uchida H, Sasaki K, Shigeta T, Hirata Y, Kanazawa H, Mali V, Fukuda A, Sakamoto S, Kasahara M.
    Pediatr Transplant; 2017 Feb 20; 21(1):. PubMed ID: 27891735
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  • 40. [Intrasplenic transplantation of hepatocytes in spf-ash mice with congenital ornithine transcarbamylase deficiency].
    Michel JL, Rabier D, Rambaud C, Kamoun P, Brousse N, Vassault A, Pla M, Calise D, Revillon Y.
    Chirurgie; 2017 Feb 20; 119(10):666-71. PubMed ID: 7729184
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