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

226 related items for PubMed ID: 7351973

  • 1. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.
    Batshaw ML, Roan Y, Jung AL, Rosenberg LA, Brusilow SW.
    N Engl J Med; 1980 Feb 28; 302(9):482-5. PubMed ID: 7351973
    [Abstract] [Full Text] [Related]

  • 2. [A new family with mutation of the structural gene of human ornithine carbamoyltransferase].
    Stoll C, Bieth R, Dreyfus J, Flori E, Lutz P, Levy JM.
    Arch Fr Pediatr; 1978 May 28; 35(5):512-8. PubMed ID: 678030
    [Abstract] [Full Text] [Related]

  • 3. The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.
    Maestri NE, Lord C, Glynn M, Bale A, Brusilow SW.
    Medicine (Baltimore); 1998 Nov 28; 77(6):389-97. PubMed ID: 9854602
    [Abstract] [Full Text] [Related]

  • 4. Carrier detection of urea cycle disorders.
    Ng WG, Oizumi J, Koch R, Shaw KN, McLaren J, Donnel GN, Carter M.
    Pediatrics; 1981 Sep 28; 68(3):448-52. PubMed ID: 7279481
    [No Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. [Genetic counseling in ornithine carbamoyltransferase deficiency].
    Pelet A, Toumas E, Rabier D, Kaplan J, Kamoun P, Frezal J, Saudubray JM, Munnich A.
    Ann Biol Clin (Paris); 1988 Dec 18; 46(7):455-9. PubMed ID: 2903704
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. 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]

  • 10. 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 04; 29(7):471-5. PubMed ID: 1353535
    [Abstract] [Full Text] [Related]

  • 11. 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
    [No Abstract] [Full Text] [Related]

  • 12. [Hyperammonemia in the newborn through ornithine transcarbamylase deficiency (author's transl)].
    Plöchl E, Hilbe W, Bachmann C.
    Padiatr Padol; 1981 Jan 04; 16(2):179-88. PubMed ID: 7243329
    [Abstract] [Full Text] [Related]

  • 13. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency.
    Gyato K, Wray J, Huang ZJ, Yudkoff M, Batshaw ML.
    Ann Neurol; 2004 Jan 04; 55(1):80-6. PubMed ID: 14705115
    [Abstract] [Full Text] [Related]

  • 14. 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
    [No Abstract] [Full Text] [Related]

  • 15. 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 04; 14(4):352-3. PubMed ID: 10502831
    [Abstract] [Full Text] [Related]

  • 16. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency.
    Batshaw ML, Msall M, Beaudet AL, Trojak J.
    J Pediatr; 1986 Feb 04; 108(2):236-41. PubMed ID: 3944708
    [Abstract] [Full Text] [Related]

  • 17. 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 Feb 04; 153():173-83. PubMed ID: 7164896
    [No Abstract] [Full Text] [Related]

  • 18. DNA analysis of ornithine transcarbamylase deficiency.
    Wendel U, Wilichowski E, Schmidtke J, Bachmann C.
    Eur J Pediatr; 1988 May 04; 147(4):368-71. PubMed ID: 2899508
    [Abstract] [Full Text] [Related]

  • 19. [Detection of female carriers of ornithine-carbamyl-transferase deficiency by measurement of orotic acid in the urine].
    Dhondt JL, Farriaux JP.
    Lille Med; 1975 Oct 04; 20(8):727-30. PubMed ID: 1219292
    [No Abstract] [Full Text] [Related]

  • 20. Carrier detection in ornithine transcarbamylase deficiency.
    Hokanson JT, O'Brien WE, Idemoto J, Schafer IA.
    J Pediatr; 1978 Jul 04; 93(1):75-8. PubMed ID: 650350
    [No Abstract] [Full Text] [Related]

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