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PUBMED FOR HANDHELDS

Journal Abstract Search


337 related items for PubMed ID: 9033181

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  • 3. Continuous arteriovenous hemodiafiltration in the acute treatment of hyperammonaemia due to ornithine transcarbamylase deficiency.
    Chen CY, Chen YC, Fang JT, Huang CC.
    Ren Fail; 2000 Nov; 22(6):823-36. PubMed ID: 11104170
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  • 4. Prenatal treatment of ornithine transcarbamylase deficiency.
    Wilnai Y, Blumenfeld YJ, Cusmano K, Hintz SR, Alcorn D, Benitz WE, Berquist WE, Bernstein JA, Castillo RO, Concepcion W, Cowan TM, Cox KL, Lyell DJ, Esquivel CO, Homeyer M, Hudgins L, Hurwitz M, Palma JP, Schelley S, Akula VP, Summar ML, Enns GM.
    Mol Genet Metab; 2018 Mar; 123(3):297-300. PubMed ID: 29396029
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  • 5. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
    Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, Cheon CK, Ko JM, Lee JH, Yoo HW.
    J Hum Genet; 2015 Sep; 60(9):501-7. PubMed ID: 25994866
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  • 7. 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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  • 12. Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene.
    Valik D, Sedova Z, Starha J, Zeman J, Hruba E, Dvorakova L.
    Acta Paediatr; 2004 May; 93(5):710-1. PubMed ID: 15174800
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  • 13. 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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  • 14. [Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency].
    Meng LL, Jiang T, Qin L, Ma DY, Chen YL, Han SP, Yu ZB, Guo XR, Hu P, Xu ZF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr; 30(2):195-8. PubMed ID: 23568734
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  • 16. New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
    Nussbaum RL, Boggs BA, Beaudet AL, Doyle S, Potter JL, O'Brien WE.
    Am J Hum Genet; 1986 Feb; 38(2):149-58. PubMed ID: 3004207
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  • 17. Site specific screening for point mutations in ornithine transcarbamylase deficiency.
    Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A.
    J Med Genet; 1992 Jul; 29(7):471-5. PubMed ID: 1353535
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