Works matching Ornithine transcarbamylase deficiency


Results: 298
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    Antepartum Ornithine Transcarbamylase Deficiency.

    Published in:
    Case Reports in Gastroenterology, 2014, v. 8, n. 3, p. 337, doi. 10.1159/000369131
    By:
    • Nakajima, Hitoshi;
    • Sasaki, Yosuke;
    • Maeda, Tadashi;
    • Takeda, Masako;
    • Hara, Noriko;
    • Nakanishi, Kazushige;
    • Urita, Yoshihisa;
    • Hattori, Risa;
    • Miura, Ken;
    • Taniguchi, Tomoko
    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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    Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0266-1
    By:
    • Brassier, Anais;
    • Gobin, Stephanie;
    • Baptiste Arnoux, Jean;
    • Valayannopoulos, Vassili;
    • Habarou, Florence;
    • Kossorotoff, Manoelle;
    • Servais, Aude;
    • Barbier, Valerie;
    • Dubois, Sandrine;
    • Touati, Guy;
    • Barouki, Robert;
    • Lesage, Fabrice;
    • Dupic, Laurent;
    • Bonnefont, Jean Paul;
    • Ottolenghi, Chris;
    • De Lonlay, Pascale
    Publication type:
    Article
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    Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 58, doi. 10.1186/s13023-015-0266-1
    By:
    • Brassier, Anais;
    • Gobin, Stephanie;
    • Arnoux, Jean Baptiste;
    • Valayannopoulos, Vassili;
    • Habarou, Florence;
    • Kossorotoff, Manoelle;
    • Servais, Aude;
    • Barbier, Valerie;
    • Dubois, Sandrine;
    • Touati, Guy;
    • Barouki, Robert;
    • Lesage, Fabrice;
    • Dupic, Laurent;
    • Bonnefont, Jean Paul;
    • Ottolenghi, Chris;
    • De Lonlay, Pascale
    Publication type:
    Article
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    新生儿鸟氨酸氨甲酰基转移酶缺乏症.

    Published in:
    Chinese Journal of Contemporary Pediatrics, 2023, v. 25, n. 4, p. 431, doi. 10.7499/j.issn.1008-8830.2302023
    By:
    • 高瑞伟;
    • 巴音;
    • 张蓉;
    • 曹云;
    • 杨琳;
    • 吴冰冰;
    • 周文浩;
    • 周建国
    Publication type:
    Article
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    Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.

    Published in:
    2022
    By:
    • Seker Yilmaz, Berna;
    • Baruteau, Julien;
    • Arslan, Nur;
    • Aydin, Halil Ibrahim;
    • Barth, Magalie;
    • Bozaci, Ayse Ergul;
    • Brassier, Anais;
    • Canda, Ebru;
    • Cano, Aline;
    • Chronopoulou, Efstathia;
    • Connolly, Grainne M.;
    • Damaj, Lena;
    • Dawson, Charlotte;
    • Dobbelaere, Dries;
    • Douillard, Claire;
    • Eminoglu, Fatma Tuba;
    • Erdol, Sahin;
    • Ersoy, Melike;
    • Fang, Sherry;
    • Feillet, François
    Publication type:
    Case Study
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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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