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

146 related items for PubMed ID: 1627356

  • 21. Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene.
    Quental R, Azevedo L, Rubio V, Diogo L, Amorim A.
    Clin Genet; 2009 May; 75(5):457-64. PubMed ID: 19475717
    [Abstract] [Full Text] [Related]

  • 22. Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
    Matsuura T, Hoshide R, Kiwaki K, Komaki S, Koike E, Endo F, Oyanagi K, Suzuki Y, Kato I, Ishikawa K.
    Hum Mutat; 1994 May; 3(4):402-6. PubMed ID: 8081398
    [No Abstract] [Full Text] [Related]

  • 23. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
    Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A.
    Hum Genet; 1991 Dec; 88(2):153-6. PubMed ID: 1721894
    [Abstract] [Full Text] [Related]

  • 24. Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency.
    Li S, Cai Y, Shi C, Liu M, Liu B, Lin L, Xiao X, Hao H.
    Med Sci Monit; 2018 Oct 18; 24():7431-7437. PubMed ID: 30333473
    [Abstract] [Full Text] [Related]

  • 25.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 26.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 27.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 28.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 29. Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
    Shimadzu M, Matsumoto H, Matsuura T, Kobayashi K, Komaki S, Kiwaki K, Hoshide R, Endo F, Saheki T, Matsuda I.
    Hum Mutat; 1998 Oct 18; Suppl 1():S5-7. PubMed ID: 9452024
    [No Abstract] [Full Text] [Related]

  • 30.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 31. 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 18; 51(3):354-359.e1. PubMed ID: 25011434
    [Abstract] [Full Text] [Related]

  • 32.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 33. Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val).
    Jamroz E, Paprocka J, Sokół M, Popowska E, Ciara E.
    Neurol Neurochir Pol; 2013 Sep 18; 47(3):283-9. PubMed ID: 23821427
    [Abstract] [Full Text] [Related]

  • 34. 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 18; 30(5):813. PubMed ID: 17570074
    [Abstract] [Full Text] [Related]

  • 35.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 36.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 37. [Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].
    Gao H, Li W, Yan ZH, Jiang MH, Rui DR, He YS.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb 18; 20(1):19-22. PubMed ID: 12579493
    [Abstract] [Full Text] [Related]

  • 38.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 39.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 40. 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 18; 60(9):501-7. PubMed ID: 25994866
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 8.