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Journal Abstract Search

100 related items for PubMed ID: 3202644

  • 1.
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  • 2. Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method.
    Hayasaka K, Metoki K, Ishiguro S, Kato S, Chiba T, Hirooka M, Kikuchi M, Kurobane I, Narisawa K, Tada K.
    Eur J Pediatr; 1987 Jul; 146(4):370-2. PubMed ID: 3308467
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  • 5. Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy.
    Pridmore CL, Clarke JT, Blaser S.
    J Child Neurol; 1995 Sep; 10(5):369-74. PubMed ID: 7499756
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  • 9. Heritable urea cycle enzyme deficiency-liver disease in 16 patients.
    LaBrecque DR, Latham PS, Riely CA, Hsia YE, Klatskin G.
    J Pediatr; 1979 Apr; 94(4):580-7. PubMed ID: 219172
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  • 11. [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 Apr; 46(7):455-9. PubMed ID: 2903704
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  • 13. [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; 35(5):512-8. PubMed ID: 678030
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  • 14. Long-term treatment of girls with ornithine transcarbamylase deficiency.
    Maestri NE, Brusilow SW, Clissold DB, Bassett SS.
    N Engl J Med; 1996 Sep 19; 335(12):855-9. PubMed ID: 8778603
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  • 15. 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 Sep 19; 9(5):409-11. PubMed ID: 9143919
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  • 16. Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
    Storkanova G, Vlaskova H, Chuzhanova N, Zeman J, Stranecky V, Majer F, Peskova K, Luksan O, Jirsa M, Hrebicek M, Dvorakova L.
    Clin Genet; 2013 Dec 19; 84(6):552-9. PubMed ID: 23278509
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  • 17. Neurological outcome of patients with ornithine carbamoyltransferase deficiency.
    Nicolaides P, Liebsch D, Dale N, Leonard J, Surtees R.
    Arch Dis Child; 2002 Jan 19; 86(1):54-6. PubMed ID: 11806886
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  • 19. Proceedings: Case of hyperammonaemia due to ornithine transcarbamylase deficiency.
    Morley C, Sardharwalla IB.
    Arch Dis Child; 1974 Sep 19; 49(9):747. PubMed ID: 4419328
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  • 20. Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency.
    Connelly A, Cross JH, Gadian DG, Hunter JV, Kirkham FJ, Leonard JV.
    Pediatr Res; 1993 Jan 19; 33(1):77-81. PubMed ID: 8433866
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