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Journal Abstract Search

176 related items for PubMed ID: 3308467

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  • 3. Carnitine deficiency associated with ornithine transcarbamylase deficiency.
    Mayatepek E, Kurczynski TW, Hoppel CL, Gunning WT.
    Pediatr Neurol; 1991; 7(3):196-9. PubMed ID: 1908679
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  • 4. 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
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  • 5. [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 Feb; 46(7):455-9. PubMed ID: 2903704
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  • 8. Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency.
    Tsai MY, Holzknecht RA, Tuchman M.
    Hum Genet; 1993 May; 91(4):321-5. PubMed ID: 8099056
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  • 14. The activity of carbamoyl-phosphate synthetase I and ornithine carbamoyltransferase (OCT) in the intestine and screening for OCT deficiency in the rectal mucosa.
    Matsushima A, Orii T.
    J Inherit Metab Dis; 1981 May; 4(2):83-4. PubMed ID: 6790859
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  • 15. 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
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  • 18. Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium.
    Oizumi J, Ng WG, Koch R, Shaw KN, Sweetman L, Velazquez A, Donnell GN.
    Clin Genet; 1984 Jun; 25(6):538-42. PubMed ID: 6733950
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