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Journal Abstract Search

158 related items for PubMed ID: 7479595

  • 1. Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.
    Segues B, Rozet JM, Gilbert B, Saugier-Veber P, Rabier D, Saudubray JM, Carré M, Rouleau FP, Menget A, Bonardi JM.
    Prenat Diagn; 1995 Aug; 15(8):757-61. PubMed ID: 7479595
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  • 2. Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.
    Slomski R, Braulke I, Behrend C, Schröder E, Colombo JP, Reiss J.
    Hum Genet; 1992 Aug; 89(6):632-4. PubMed ID: 1511981
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  • 4. 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; 14(4):352-3. PubMed ID: 10502831
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  • 10. OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
    Lee JH, Kim GH, Yoo HW, Cheon CK.
    Pediatr Neurol; 2014 Sep; 51(3):354-359.e1. PubMed ID: 25011434
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  • 11. 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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  • 12. Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous female patient.
    Heringlake S, Böker K, Manns M.
    Digestion; 1997 Dec; 58(1):83-6. PubMed ID: 9018015
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  • 16. Ornithine transcarbamylase deficiency.
    Yeh SJ, Hou WL, Tsai WS, Wu TJ, Tuchman M, Wang TR.
    J Formos Med Assoc; 1997 Jan; 96(1):43-5. PubMed ID: 9033181
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  • 17. Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.
    Zhou Y, Jiang X, Zhang Y, Zhang Y, Sun F, Ma Y.
    BMC Pregnancy Childbirth; 2024 Jul 22; 24(1):491. PubMed ID: 39039447
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  • 19. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
    Yoo HW, Kim GH, Lee DH.
    J Inherit Metab Dis; 1996 Jul 22; 19(1):31-42. PubMed ID: 8830175
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