Works matching DE "ORNITHINE carbamoyltransferase"


Results: 117
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    The presence of citrulline in salivary glands is evidence that nitric oxide is mediator of inflammation in Sjögren acinar epithelia.

    Published in:
    International Journal of Rheumatic Diseases, 2008, v. 11, n. 3, p. 263, doi. 10.1111/j.1756-185X.2008.00387.x
    By:
    • Bollain-Y-Goytia, Juan José;
    • Mendoza-Salazar, Lucero;
    • Romo-Flores, María de Lourdes;
    • Villanueva-Guzmán, Margarita;
    • López-Robles, Eréndira;
    • Ramírez-Sandoval, Roxana;
    • López-Saucedo, Adrián;
    • Avalos-Díaz, Esperanza;
    • Herrera-Esparza, Rafael
    Publication type:
    Article
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    Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report.

    Published in:
    Neuropathology, 2017, v. 37, n. 6, p. 586, doi. 10.1111/neup.12404
    By:
    • López‐Corella, Eduardo;
    • Ibarra‐González, Isabel;
    • Fernández‐Lainez, Cynthia;
    • Rodríguez‐Weber, Miguel Á.;
    • Guillén‐Lopez, Sara;
    • Belmont‐Martínez, Leticia;
    • Agüero‐Linares, David;
    • Vela‐Amieva, Marcela
    Publication type:
    Article
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    Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.

    Published in:
    Journal of Human Genetics, 2010, v. 55, n. 1, p. 18, doi. 10.1038/jhg.2009.113
    By:
    • Numata, Sanae;
    • Koda, Yoshiro;
    • Ihara, Kenji;
    • Sawada, Tomo;
    • Okano, Yoshiyuki;
    • Matsuura, Toshinobu;
    • Endo, Fumio;
    • Han-Wook Yoo;
    • Arranz, Jose A.;
    • Rubio, Vicente;
    • Wermuth, Bendicht;
    • Ah Mew, Nicholas;
    • Tuchman, Mendel;
    • Pinner, Jason R.;
    • Kirk, Edwin P.;
    • Yoshino, Makoto
    Publication type:
    Article
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    Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0105-9
    By:
    • Cavicchi, Catia;
    • Donati, Maria Alice;
    • Parini, Rossella;
    • Rigoldi, Miriam;
    • Bernardi, Mauro;
    • Orfei, Francesca;
    • Silveri, Nicolò Gentiloni;
    • Colasante, Aniello;
    • Funghini, Silvia;
    • Catarzi, Serena;
    • Pasquini, Elisabetta;
    • La Marca, Giancarlo;
    • Mooney, Sean David;
    • Guerrini, Renzo;
    • Morrone, Amelia
    Publication type:
    Article