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Journal Abstract Search

169 related items for PubMed ID: 32828733

  • 1. Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients.
    Lee T, Yoshii K, Yoshida S, Suga T, Nakamura K, Sasai H, Murayama K, Kobayashi H, Hasegawa Y, Takeshima Y.
    Clin Chim Acta; 2020 Nov; 510():633-637. PubMed ID: 32828733
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  • 2. Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.
    Cavicchi C, Malvagia S, la Marca G, Gasperini S, Donati MA, Zammarchi E, Guerrini R, Morrone A, Pasquini E.
    J Pharm Biomed Anal; 2009 Jul 12; 49(5):1292-5. PubMed ID: 19359120
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  • 3. The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
    Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, Abu Salah N, Anikster Y, Banne E, Dar D, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Hershkovitz E, Josefsberg S, Khammash H, Keidar R, Korman SH, Landau Y, Lerman-Sagie T, Mandel D, Mandel H, Marom R, Morag I, Nadir E, Yosha-Orpaz N, Pode-Shakked B, Pras E, Reznik-Wolf H, Saada A, Segel R, Shaag A, Shaul Lotan N, Spiegel R, Tal G, Vaisid T, Zeharia A, Almashanu S.
    J Inherit Metab Dis; 2021 May 12; 44(3):606-617. PubMed ID: 33190319
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  • 10. Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.
    Siri B, Olivieri G, Lepri FR, Poms M, Goffredo BM, Commone A, Novelli A, Häberle J, Dionisi-Vici C.
    Orphanet J Rare Dis; 2024 Jan 02; 19(1):3. PubMed ID: 38167094
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  • 12. Early intervention for late-onset ornithine transcarbamylase deficiency.
    Fujisawa D, Mitsubuchi H, Matsumoto S, Iwai M, Nakamura K, Hoshide R, Harada N, Yoshino M, Endo F.
    Pediatr Int; 2015 Jan 02; 57(1):e1-3. PubMed ID: 25711267
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  • 18. Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.
    Shao Y, Jiang M, Lin Y, Mei H, Zhang W, Cai Y, Su X, Hu H, Li X, Liu L.
    Clin Genet; 2017 Sep 02; 92(3):318-322. PubMed ID: 28266016
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  • 19. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China.
    Yuan G, Liu Z, Chen Z, Zhang X, Zhang W, Chen D.
    Ital J Pediatr; 2024 Sep 11; 50(1):171. PubMed ID: 39256843
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