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Journal Abstract Search

146 related items for PubMed ID: 8282523

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  • 27. 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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  • 30. Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations.
    Nguyen HH, Khanh Nguyen N, Dung Vu C, Thu Huong Nguyen T, Nguyen NL.
    Front Pediatr; 2020 Jul; 8():321. PubMed ID: 32793520
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  • 32. [Report of a case with late-onset ornithine transcarbamylase deficiency with gas chromatography-mass spectrometry and DNA sequencing confirmation and literatures review].
    Tong W, Jin D, Sun J.
    Zhonghua Er Ke Za Zhi; 2015 May; 53(5):366-9. PubMed ID: 26080667
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  • 33. A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy.
    Schimanski U, Krieger D, Horn M, Stremmel W, Wermuth B, Theilmann L.
    Hepatology; 1996 Dec; 24(6):1413-5. PubMed ID: 8938172
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  • 34. [Partial ornithine carbamyl transferase deficiency].
    Largillière C.
    Pediatrie; 1988 Dec; 43(4):309-12. PubMed ID: 3419873
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  • 36. Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency.
    Sprouse C, King J, Helman G, Pacheco-Colón I, Shattuck K, Breeden A, Seltzer R, VanMeter JW, Gropman AL.
    Mol Genet Metab; 2014 Dec; 113(1-2):136-41. PubMed ID: 24881970
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