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Journal Abstract Search


227 related items for PubMed ID: 24485820

  • 1.
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  • 2. Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).
    Laemmle A, Gallagher RC, Keogh A, Stricker T, Gautschi M, Nuoffer JM, Baumgartner MR, Häberle J.
    PLoS One; 2016; 11(4):e0153358. PubMed ID: 27070778
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  • 4. Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series.
    Selvanathan A, Hertzog A, Lemberg DA, Ellaway C.
    J Pediatr Gastroenterol Nutr; 2020 Aug; 71(2):208-210. PubMed ID: 32265410
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  • 6. 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; 21(1):. PubMed ID: 27891735
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  • 8. Prenatal treatment of ornithine transcarbamylase deficiency.
    Wilnai Y, Blumenfeld YJ, Cusmano K, Hintz SR, Alcorn D, Benitz WE, Berquist WE, Bernstein JA, Castillo RO, Concepcion W, Cowan TM, Cox KL, Lyell DJ, Esquivel CO, Homeyer M, Hudgins L, Hurwitz M, Palma JP, Schelley S, Akula VP, Summar ML, Enns GM.
    Mol Genet Metab; 2018 Mar; 123(3):297-300. PubMed ID: 29396029
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  • 9. Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients.
    Lee T, Yoshii K, Yoshida S, Suga T, Nakamura K, Sasai H, Murayama K, Kobayashi H, Hasegawa Y, Takeshima Y.
    Clin Chim Acta; 2020 Nov; 510():633-637. PubMed ID: 32828733
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  • 10. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China.
    Yuan G, Liu Z, Chen Z, Zhang X, Zhang W, Chen D.
    Ital J Pediatr; 2024 Sep 11; 50(1):171. PubMed ID: 39256843
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  • 11. 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 11; 33(3):474.e1-3. PubMed ID: 25227973
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  • 12. Establishment of ornithine transcarbamylase deficiency-derived primary human hepatocyte with hepatic functions.
    Su S, Di Poto C, Kroemer AH, Cui W, Roy R, Liu X, Ressom HW.
    Exp Cell Res; 2019 Nov 01; 384(1):111621. PubMed ID: 31513782
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  • 13. Liver transplantation in rare late-onset ornithine transcarbamylase deficiency with central nervous system injury: A case report and review of the literature.
    Jin X, Zeng X, Zhao D, Jiang N.
    Brain Behav; 2022 Oct 01; 12(10):e2765. PubMed ID: 36128655
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  • 14. Anesthetic implications of ornithine transcarbamylase deficiency.
    Dutoit AP, Flick RR, Sprung J, Babovic-Vuksanovic D, Weingarten TN.
    Paediatr Anaesth; 2010 Jul 01; 20(7):666-73. PubMed ID: 20497355
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  • 15. An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency.
    Scaglia F, Zheng Q, O'Brien WE, Henry J, Rosenberger J, Reeds P, Lee B.
    Pediatrics; 2002 Jan 01; 109(1):150-2. PubMed ID: 11773558
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  • 16. Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment.
    Yamamoto S, Yamashita S, Kakiuchi T, Kurogi K, Nishi TM, Tago M, Yamashita SI.
    Am J Case Rep; 2022 Nov 15; 23():e937658. PubMed ID: 36377209
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  • 17. 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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  • 18. Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review.
    Torkzaban M, Haddad A, Baxter JK, Berghella V, Gahl WA, Al-Kouatly HB.
    Am J Med Genet A; 2019 Oct 26; 179(10):2091-2100. PubMed ID: 31441224
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  • 19. Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
    Sen K, Izem R, Long Y, Jiang J, Konczal LL, McCarter RJ, Members of the Urea Cycle Disorders Consortium (UCDC), Gropman AL, Bedoyan JK.
    Mol Genet Genomic Med; 2024 Apr 26; 12(4):e2443. PubMed ID: 38634223
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  • 20. Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding.
    Trivedi M, Zafar S, Spalding MJ, Jonnalagadda S.
    J Clin Gastroenterol; 2001 Apr 26; 32(4):340-3. PubMed ID: 11276280
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