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Journal Abstract Search

213 related items for PubMed ID: 4681915

  • 1. Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.
    Short EM, Conn HO, Snodgrass PJ, Campbell AG, Rosenberg LE.
    N Engl J Med; 1973 Jan 04; 288(1):7-12. PubMed ID: 4681915
    [No Abstract] [Full Text] [Related]

  • 2. [Hereditary hyperammonemia due to qualitative abnormality of hepatic and intestinal ornithine carbamoyl-transferase].
    Cathelineau L, Navarro J, Aymard P, Baudon JJ, Mondet Y, Polonovski C, Laplane R.
    Arch Fr Pediatr; 1972 Jan 04; 29(7):713-36. PubMed ID: 4644461
    [No Abstract] [Full Text] [Related]

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  • 4. Hyperammonemia due to a defect in hepatic ornithine transcarbamylase.
    Sunshine P, Lindenbaum JE, Levy HL, Freeman JM.
    Pediatrics; 1972 Jul 04; 50(1):100-11. PubMed ID: 5038084
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  • 6. Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency.
    Goldstein AS, Hoogenraad NJ, Johnson JD, Fukanaga K, Swierczewski E, Cann HM, Sunshine P.
    Pediatr Res; 1974 Jan 04; 8(1):5-12. PubMed ID: 4809308
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  • 8. [Hereditary ornithine-carbamyl-transferase deficiency with qualitative enzyme abnormality. Report of a form with neonatal revelation and fatal course in a boy].
    Saudubray JM, Cathelineau L, Charpentier C, Boisse J, Allaneau C, Le Bont H, Lesage B.
    Arch Fr Pediatr; 1973 Jan 04; 30(1):15-27. PubMed ID: 4721585
    [No Abstract] [Full Text] [Related]

  • 9. Use of immunocytochemical analysis of a duodenal biopsy specimen to identify a carrier of ornithine transcarbamylase deficiency.
    Hamano Y, Kodama H, Fujikawa Y, Tanaka Y, Nishimura K, Yanagisawa M.
    N Engl J Med; 1988 Jun 09; 318(23):1521-3. PubMed ID: 3367962
    [No Abstract] [Full Text] [Related]

  • 10. Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child.
    Levin B, Abraham JM, Oberholzer VG, Burgess EA.
    Arch Dis Child; 1969 Apr 09; 44(234):152-61. PubMed ID: 5779426
    [No Abstract] [Full Text] [Related]

  • 11. Site specific screening for point mutations in ornithine transcarbamylase deficiency.
    Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A.
    J Med Genet; 1992 Jul 09; 29(7):471-5. PubMed ID: 1353535
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  • 12. 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
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  • 13. [DNA diagnosis of ornithine transcarbamylase deficiency by PCR method].
    Matsuura T, Matsuda I.
    Tanpakushitsu Kakusan Koso; 1990 Dec 18; 35(17):3113-9. PubMed ID: 2287729
    [No Abstract] [Full Text] [Related]

  • 14. Immunochemical assay in 16 boys with ornithine transcarbamylase deficiency.
    Francois B, Briand P, Cathelineau L.
    Adv Exp Med Biol; 1982 Dec 18; 153():53-62. PubMed ID: 6819766
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  • 16. Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency.
    de Grauw TJ, Smit LM, Brockstedt M, Meijer Y, vd Klei-von Moorsel J, Jakobs C.
    Neuropediatrics; 1990 Aug 18; 21(3):133-5. PubMed ID: 2234317
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  • 18. 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
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  • 19. [Hyperammonemia in the newborn through ornithine transcarbamylase deficiency (author's transl)].
    Plöchl E, Hilbe W, Bachmann C.
    Padiatr Padol; 1981 Sep 18; 16(2):179-88. PubMed ID: 7243329
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  • 20. Spontaneous animal models of ornithine transcarbamylase deficiency: studies on serum and urinary nitrogenous metabolites.
    Qureshi IA, Letarte J, Ouellet R.
    Adv Exp Med Biol; 1982 Sep 18; 153():173-83. PubMed ID: 7164896
    [No Abstract] [Full Text] [Related]

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