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690 related items for PubMed ID: 26059767

  • 1. Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
    Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H.
    J Genet Genomics; 2015 May 20; 42(5):181-94. PubMed ID: 26059767
    [Abstract] [Full Text] [Related]

  • 2. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
    Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M.
    Hum Mutat; 2006 Jul 20; 27(7):626-32. PubMed ID: 16786505
    [Abstract] [Full Text] [Related]

  • 3. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG.
    Hum Mutat; 2002 Feb 20; 19(2):93-107. PubMed ID: 11793468
    [Abstract] [Full Text] [Related]

  • 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 20; 30(5):813. PubMed ID: 17570074
    [Abstract] [Full Text] [Related]

  • 5. Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
    Climent C, Rubio V.
    Hum Mutat; 2002 Feb 20; 19(2):185-6. PubMed ID: 11793483
    [Abstract] [Full Text] [Related]

  • 6. A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
    Mohamed S, Hamad MH, Kondkar AA, Abu-Amero KK.
    Saudi Med J; 2015 Oct 20; 36(10):1229-32. PubMed ID: 26446336
    [Abstract] [Full Text] [Related]

  • 7. 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 20; 51(3):354-359.e1. PubMed ID: 25011434
    [Abstract] [Full Text] [Related]

  • 8. 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 20; 60(9):501-7. PubMed ID: 25994866
    [Abstract] [Full Text] [Related]

  • 9. In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.
    Suriano G, Azevedo L, Novais M, Boscolo B, Seruca R, Amorim A, Ghibaudi EM.
    Hum Mol Genet; 2007 Sep 15; 16(18):2209-14. PubMed ID: 17613537
    [Abstract] [Full Text] [Related]

  • 10. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
    Ogino W, Takeshima Y, Nishiyama A, Okizuka Y, Yagi M, Tsuneishi S, Saiki K, Kugo M, Matsuo M.
    Kobe J Med Sci; 2007 Sep 15; 53(5):229-40. PubMed ID: 18204299
    [Abstract] [Full Text] [Related]

  • 11. Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.
    Kim GH, Choi JH, Lee HH, Park S, Kim SS, Yoo HW.
    Hum Mutat; 2006 Nov 15; 27(11):1159. PubMed ID: 17041896
    [Abstract] [Full Text] [Related]

  • 12. Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report.
    Alameri M, Shakra M, Alsaadi T.
    J Med Case Rep; 2015 Nov 23; 9():267. PubMed ID: 26593089
    [Abstract] [Full Text] [Related]

  • 13. Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.
    McCullough BA, Yudkoff M, Batshaw ML, Wilson JM, Raper SE, Tuchman M.
    Am J Med Genet; 2000 Aug 14; 93(4):313-9. PubMed ID: 10946359
    [Abstract] [Full Text] [Related]

  • 14. [Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency].
    Meng LL, Jiang T, Qin L, Ma DY, Chen YL, Han SP, Yu ZB, Guo XR, Hu P, Xu ZF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr 14; 30(2):195-8. PubMed ID: 23568734
    [Abstract] [Full Text] [Related]

  • 15. Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet.
    Ben-Ari Z, Dalal A, Morry A, Pitlik S, Zinger P, Cohen J, Fattal I, Galili-Mosberg R, Tessler D, Baruch RG, Nuoffer JM, Largiader CR, Mandel H.
    J Hepatol; 2010 Feb 14; 52(2):292-5. PubMed ID: 20031247
    [Abstract] [Full Text] [Related]

  • 16. 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 14; 99(1):34-41. PubMed ID: 19783189
    [Abstract] [Full Text] [Related]

  • 17. H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency.
    Climent C, Rubio V.
    Hum Mutat; 2002 Nov 14; 20(5):407-8. PubMed ID: 12402347
    [Abstract] [Full Text] [Related]

  • 18. The molecular basis of ornithine transcarbamylase deficiency.
    Tuchman M, McCullough BA, Yudkoff M.
    Eur J Pediatr; 2000 Dec 14; 159 Suppl 3():S196-8. PubMed ID: 11216899
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. Novel human pathological mutations. Gene symbol: OTC. Disease: ornithine transcarbamylase deficiency.
    Lin HY, Lin HY, Lin SP.
    Hum Genet; 2010 Apr 26; 127(4):475. PubMed ID: 21488237
    [No Abstract] [Full Text] [Related]

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