These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

222 related items for PubMed ID: 25026867

  • 1. Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
    Cavicchi C, Donati M, Parini R, Rigoldi M, Bernardi M, Orfei F, Gentiloni Silveri N, Colasante A, Funghini S, Catarzi S, Pasquini E, la Marca G, Mooney S, Guerrini R, Morrone A.
    Orphanet J Rare Dis; 2014 Jul 16; 9():105. PubMed ID: 25026867
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6. 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 Jan 02; 57(1):e1-3. PubMed ID: 25711267
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
    Lee JH, Kim GH, Yoo HW, Cheon CK.
    Pediatr Neurol; 2014 Sep 11; 51(3):354-359.e1. PubMed ID: 25011434
    [Abstract] [Full Text] [Related]

  • 9. 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 11; 92(3):318-322. PubMed ID: 28266016
    [Abstract] [Full Text] [Related]

  • 10. Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.
    Arranz JA, Riudor E, Marco-Marín C, Rubio V.
    J Inherit Metab Dis; 2007 Apr 11; 30(2):217-26. PubMed ID: 17334707
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 12. 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 11; 13(4):1084-1087. PubMed ID: 23551631
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. 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 11; 123(3):297-300. PubMed ID: 29396029
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
    Lu D, Han F, Qiu W, Zhang H, Ye J, Liang L, Wang Y, Ji W, Zhan X, Gu X, Han L.
    Orphanet J Rare Dis; 2020 Dec 03; 15(1):340. PubMed ID: 33272297
    [Abstract] [Full Text] [Related]

  • 17. [Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].
    Chen Z, Wen P, Wang G, Liu X, Chen L, Chen S, Wan L, Cui D, Shang Y, Li C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct 03; 31(5):565-9. PubMed ID: 25297582
    [Abstract] [Full Text] [Related]

  • 18. 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 03; 60(9):501-7. PubMed ID: 25994866
    [Abstract] [Full Text] [Related]

  • 19. 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 03; 109(1):150-2. PubMed ID: 11773558
    [Abstract] [Full Text] [Related]

  • 20. Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.
    Giorgi M, Morrone A, Donati MA, Ciani F, Bardelli T, Biasucci G, Zammarchi E.
    Hum Mutat; 2000 Apr 03; 15(4):380-1. PubMed ID: 10737985
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 12.