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Journal Abstract Search

237 related items for PubMed ID: 29623395

  • 1. 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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  • 2. Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.
    Krijt J, Sokolová J, Ješina P, Dvořáková L, Řeboun M, Brennerová K, Mistrík M, Zeman J, Honzík T, Kožich V.
    Clin Chem Lab Med; 2017 Jul 26; 55(8):1168-1177. PubMed ID: 28107167
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  • 3. Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.
    Cunningham SC, van Dijk EB, Zhu E, Sugden M, Mandwie M, Siew S, Devanapalli B, Tolun AA, Klein A, Wilson L, Aryamanesh N, Gissen P, Baruteau J, Bhattacharya K, Alexander IE.
    Hum Gene Ther; 2023 Sep 26; 34(17-18):917-926. PubMed ID: 37350098
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  • 4. Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.
    Arranz JA, Madrigal I, Riudor E, Armengol L, Milà M.
    J Inherit Metab Dis; 2007 Oct 26; 30(5):813. PubMed ID: 17570074
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  • 5. OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
    Gobin-Limballe S, Ottolenghi C, Reyal F, Arnoux JB, Magen M, Simon M, Brassier A, Jabot-Hanin F, Lonlay P, Pontoizeau C, Guirat M, Rio M, Gesny R, Gigarel N, Royer G, Steffann J, Munnich A, Bonnefont JP.
    J Inherit Metab Dis; 2021 Sep 26; 44(5):1235-1247. PubMed ID: 34014569
    [Abstract] [Full Text] [Related]

  • 6. An OTC deficiency 'phenocopy' in association with Klinefelter syndrome.
    Swarts L, Leisegang F, Owen EP, Henderson HE.
    J Inherit Metab Dis; 2007 Feb 26; 30(1):101. PubMed ID: 17186414
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  • 7. X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.
    Yorifuji T, Muroi J, Uematsu A, Tanaka K, Kiwaki K, Endo F, Matsuda I, Nagasaka H, Furusho K.
    Clin Genet; 1998 Oct 26; 54(4):349-53. PubMed ID: 9831349
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  • 14. Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency.
    Balasubramaniam S, Rudduck C, Bennetts B, Peters G, Wilcken B, Ellaway C.
    Mol Genet Metab; 2010 Jan 26; 99(1):34-41. PubMed ID: 19783189
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  • 15. X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.
    Ricciuti FC, Gelehrter TD, Rosenberg LE.
    Am J Hum Genet; 1976 Jul 26; 28(4):332-8. PubMed ID: 941900
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  • 16. n of 1 trial for an ornithine transcarbamylase deficiency carrier.
    Hackett A, Gillard J, Wilcken B.
    Mol Genet Metab; 2008 Jun 26; 94(2):157-61. PubMed ID: 18343177
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  • 17. Histopathological findings in livers of patients with urea cycle disorders.
    Yaplito-Lee J, Chow CW, Boneh A.
    Mol Genet Metab; 2013 Mar 26; 108(3):161-5. PubMed ID: 23403242
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  • 18. 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 26; 21(1):. PubMed ID: 27891735
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  • 20. Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations.
    Gao J, Gao F, Hong F, Yu H, Jiang P.
    Am J Emerg Med; 2015 Mar 26; 33(3):474.e1-3. PubMed ID: 25227973
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