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Journal Abstract Search

198 related items for PubMed ID: 9223881

  • 21. Natural history of symptomatic partial ornithine transcarbamylase deficiency.
    Rowe PC, Newman SL, Brusilow SW.
    N Engl J Med; 1986 Feb 27; 314(9):541-7. PubMed ID: 3945292
    [Abstract] [Full Text] [Related]

  • 22. [Congenital deficiency of ornithine transcarbamylase. Description of 2 clinical cases].
    D'Eufemia P, Corrado G, Sabetta G, Castro M, Martino F, Cantani A, Ruberto U.
    Minerva Pediatr; 1983 Mar 15; 35(5):219-24. PubMed ID: 6343831
    [No Abstract] [Full Text] [Related]

  • 23. High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure.
    Teufel U, Weitz J, Flechtenmacher C, Prietsch V, Schmidt J, Hoffmann GF, Kölker S, Engelmann G.
    Pediatr Transplant; 2011 Sep 15; 15(6):E110-5. PubMed ID: 21884343
    [Abstract] [Full Text] [Related]

  • 24. Inborn errors of urea synthesis.
    Batshaw ML.
    Ann Neurol; 1994 Feb 15; 35(2):133-41. PubMed ID: 7906500
    [Abstract] [Full Text] [Related]

  • 25. Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients.
    Burlina AB, Ogier H, Korall H, Trefz FK.
    Mol Genet Metab; 2001 Apr 15; 72(4):351-5. PubMed ID: 11286510
    [Abstract] [Full Text] [Related]

  • 26. 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 15; 33(3):474.e1-3. PubMed ID: 25227973
    [Abstract] [Full Text] [Related]

  • 27. Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
    Oppliger Leibundgut E, Liechti-Gallati S, Colombo JP, Wermuth B.
    Hum Mutat; 1997 Mar 15; 9(5):409-11. PubMed ID: 9143919
    [No Abstract] [Full Text] [Related]

  • 28. [Ornithine transcarbamylase deficiency (OTCD)].
    Matsuura T, Matsuda I.
    Ryoikibetsu Shokogun Shirizu; 1998 Mar 15; (18 Pt 1):170-4. PubMed ID: 9590019
    [No Abstract] [Full Text] [Related]

  • 29. Ornithine transcarbamylase deficiency--a cause of bizarre behavior in a man.
    DiMagno EP, Lowe JE, Snodgrass PJ, Jones JD.
    N Engl J Med; 1986 Sep 18; 315(12):744-7. PubMed ID: 3748082
    [No Abstract] [Full Text] [Related]

  • 30. Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency.
    Batshaw ML, Robinson MB, Ye X, Pabin C, Daikhin Y, Burton BK, Wilson JM, Yudkoff M.
    Pediatr Res; 1999 Nov 18; 46(5):588-93. PubMed ID: 10541323
    [Abstract] [Full Text] [Related]

  • 31. Clinical and laboratory study in 22 patients with inherited hyperammonemic syndromes.
    Rottem M, Statter M, Amit R, Brand N, Bujanover Y, Yatziv S.
    Isr J Med Sci; 1986 Nov 18; 22(11):833-6. PubMed ID: 3793440
    [Abstract] [Full Text] [Related]

  • 32. Characteristics of NO cycle coupling with urea cycle in non-hyperammonemic carriers of ornithine transcarbamylase deficiency.
    Nagasaka H, Yorifuji T, Egawa H, Inui A, Fujisawa T, Komatsu H, Tsukahara H, Uemoto S, Inomata Y.
    Mol Genet Metab; 2013 Jul 18; 109(3):251-4. PubMed ID: 23669167
    [Abstract] [Full Text] [Related]

  • 33. Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.
    Ahrens MJ, Berry SA, Whitley CB, Markowitz DJ, Plante RJ, Tuchman M.
    Am J Med Genet; 1996 Dec 18; 66(3):311-5. PubMed ID: 8985493
    [Abstract] [Full Text] [Related]

  • 34. Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
    Climent C, García-Pérez MA, Sanjurjo P, Ruiz-Sanz JI, Vilaseca MA, Pineda M, Campistol J, Rubio V.
    Hum Mutat; 1999 Oct 18; 14(4):352-3. PubMed ID: 10502831
    [Abstract] [Full Text] [Related]

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  • 36. [Ornithine transcarbamylase deficiency. Biochemical studies in the diagnosis of 4 cases and the identification of carriers].
    Briones Godino P, Vilaseca Busca MA, Alvarez Dominguez L, Rodes Monegal M, Campistol Plana J.
    An Esp Pediatr; 1991 May 18; 34(5):360-4. PubMed ID: 1883110
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  • 40. Urea cycle disorders in Thai infants: a report of 5 cases.
    Wasant P, Srisomsap C, Liammongkolkul S, Svasti J.
    J Med Assoc Thai; 2002 Aug 18; 85 Suppl 2():S720-31. PubMed ID: 12403252
    [Abstract] [Full Text] [Related]

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