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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

399 related articles for article (PubMed ID: 9064003)

  • 1. Amino acid and DNA analyses in a family with ornithine transcarbamylase deficiency.
    Hou JW; Wang TR
    J Formos Med Assoc; 1996 Feb; 95(2):144-7. PubMed ID: 9064003
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia.
    Tuchman M; Yudkoff M
    Mol Genet Metab; 1999 Jan; 66(1):10-5. PubMed ID: 9973542
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ornithine transcarbamylase deficiency: enzyme studies on a further case and a method of diagnosis using plasma enzyme ratios.
    Gray RG; Black JA; Lyons VH; Pollitt RJ
    Pediatr Res; 1976 Nov; 10(11):918-23. PubMed ID: 980551
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males.
    Campbell AG; Rosenberg LE; Snodgrass PJ; Nuzum CT
    N Engl J Med; 1973 Jan; 288(1):1-6. PubMed ID: 4681895
    [No Abstract]   [Full Text] [Related]  

  • 6. 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; 85 Suppl 2():S720-31. PubMed ID: 12403252
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. Unusual biochemical and clinical features in a girl with ornithine transcarbamylase deficiency.
    Lacey DJ; Duffner PK; Cohen ME; Mosovich L
    Pediatr Neurol; 1986; 2(1):51-3. PubMed ID: 3508674
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity.
    Hoshide R; Matsuura T; Sagara Y; Kubo T; Shimadzu M; Endo F; Matsuda I
    Am J Med Genet; 1996 Aug; 64(3):459-64. PubMed ID: 8862622
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.
    Brusilow SW
    J Clin Invest; 1984 Dec; 74(6):2144-8. PubMed ID: 6511918
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 302(9):482-5. PubMed ID: 7351973
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Hyperammonemia due to ornithine transcarbamylase deficiency--a cause of lethal metabolic crisis during the newborn period and infancy (author's transl)].
    Schuchmann L; Colombo JP; Fischer H
    Klin Padiatr; 1980 May; 192(3):281-5. PubMed ID: 7191930
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Neonatal hyperammonemia due to ornithine transcarbamylase deficiency (author's transl)].
    del Valle JA; Urbón A; García MJ; Cuadrado P; Ugarte M
    An Esp Pediatr; 1982 May; 16(5):416-20. PubMed ID: 7114619
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.
    Koya Y; Shibata M; Senju M; Honma Y; Hiura M; Ishii M; Matsumoto S; Harada M
    Intern Med; 2019 Apr; 58(7):937-942. PubMed ID: 30449781
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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; 46(7):455-9. PubMed ID: 2903704
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [DNA diagnosis of ornithine transcarbamylase deficiency by PCR method].
    Matsuura T; Matsuda I
    Tanpakushitsu Kakusan Koso; 1990 Dec; 35(17):3113-9. PubMed ID: 2287729
    [No Abstract]   [Full Text] [Related]  

  • 18. Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency.
    Bowling F; McGown I; McGill J; Cowley D; Tuchman M
    Am J Med Genet; 1999 Aug; 85(5):452-4. PubMed ID: 10405441
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 66(3):311-5. PubMed ID: 8985493
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [The dibasic amino acid metabolic disorders].
    Shimizu H
    Nihon Rinsho; 1992 Jul; 50(7):1555-60. PubMed ID: 1404883
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.