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Journal Abstract Search

185 related items for PubMed ID: 38167094

  • 1. Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.
    Siri B, Olivieri G, Lepri FR, Poms M, Goffredo BM, Commone A, Novelli A, Häberle J, Dionisi-Vici C.
    Orphanet J Rare Dis; 2024 Jan 02; 19(1):3. PubMed ID: 38167094
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  • 2. 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 02; 33(3):474.e1-3. PubMed ID: 25227973
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  • 4. 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 02; 123(3):297-300. PubMed ID: 29396029
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  • 5. A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient.
    Mukhtar A, Dabbous H, El Sayed R, Aboulfetouh F, Bahaa M, Abdelaal A, Fathy M, El-Meteini M.
    Am J Transplant; 2013 Apr 02; 13(4):1084-1087. PubMed ID: 23551631
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  • 7. Early intervention for late-onset ornithine transcarbamylase deficiency.
    Fujisawa D, Mitsubuchi H, Matsumoto S, Iwai M, Nakamura K, Hoshide R, Harada N, Yoshino M, Endo F.
    Pediatr Int; 2015 Apr 02; 57(1):e1-3. PubMed ID: 25711267
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  • 8. The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency.
    Chongsrisawat V, Damrongphol P, Ittiwut C, Ittiwut R, Suphapeetiporn K, Shotelersuk V.
    Gene; 2018 Dec 30; 679():377-381. PubMed ID: 30223008
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  • 9. Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.
    Zhou Y, Jiang X, Zhang Y, Zhang Y, Sun F, Ma Y.
    BMC Pregnancy Childbirth; 2024 Jul 22; 24(1):491. PubMed ID: 39039447
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  • 12. 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 22; 179(10):2091-2100. PubMed ID: 31441224
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  • 13. 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 22; 12(4):e2443. PubMed ID: 38634223
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  • 14. Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.
    Shao Y, Jiang M, Lin Y, Mei H, Zhang W, Cai Y, Su X, Hu H, Li X, Liu L.
    Clin Genet; 2017 Sep 22; 92(3):318-322. PubMed ID: 28266016
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  • 19. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
    Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, Cheon CK, Ko JM, Lee JH, Yoo HW.
    J Hum Genet; 2015 Sep 22; 60(9):501-7. PubMed ID: 25994866
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  • 20. Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients.
    Numata S, Harada E, Maeno Y, Ueki I, Watanabe Y, Fujii C, Yanagawa T, Takenaka S, Inoue T, Inoue S, Goushi T, Yasutake T, Mizuta T, Yoshino M.
    J Hum Genet; 2008 Sep 22; 53(1):10-17. PubMed ID: 18030415
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