Works matching IS 01418955 AND DT 2024 AND VI 47 AND IP 6

Results: 20
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    Therapeutic liver cell transplantation to treat murine PKU.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 6, p. 1322, doi. 10.1002/jimd.12802
    By:
    • Willimann, Melanie;
    • Grisch‐Chan, Hiu Man;
    • Rimann, Nicole;
    • Rothgangl, Tanja;
    • Hruzova, Martina;
    • Schwank, Gerald;
    • Thöny, Beat
    Publication type:
    Article
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    The therapeutic landscape of citrin deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 6, p. 1157, doi. 10.1002/jimd.12768
    By:
    • Vuković, Toni;
    • Kuek, Li Eon;
    • Yu, Barbara;
    • Makris, Georgios;
    • Häberle, Johannes
    Publication type:
    Article
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    The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 6, p. 1239, doi. 10.1002/jimd.12695
    By:
    • Stepien, Karolina M.;
    • Langendonk, Janneke G.;
    • Dao, Myriam;
    • Gomes, Daniel Costa;
    • Douillard, Claire;
    • Filipsson, Karin;
    • Glamuzina, Emma;
    • Haverkamp, Jorien A.;
    • Langeveld, Mirjam;
    • Lehman, Anna;
    • de Lonlay, Pascale;
    • Lund, Allan M.;
    • Oscarson, Mikael;
    • Peltenburg, N. Chantal;
    • Ramadža, Danijela Petković;
    • Ramachandran, Radha;
    • Reismann, Peter;
    • Shtylla, Alboren;
    • Tchan, Michel;
    • Tan, Chong Yew
    Publication type:
    Article
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    The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 6, p. 1213, doi. 10.1002/jimd.12691
    By:
    • Gurung, Sonam;
    • Karamched, Saketh;
    • Perocheau, Dany;
    • Seunarine, Kiran K.;
    • Baldwin, Tom;
    • Alrashidi, Haya;
    • Touramanidou, Loukia;
    • Duff, Claire;
    • Elkhateeb, Nour;
    • Stepien, Karolina M.;
    • Sharma, Reena;
    • Morris, Andrew;
    • Hartley, Thomas;
    • Crowther, Laura;
    • Grunewald, Stephanie;
    • Cleary, Maureen;
    • Mundy, Helen;
    • Chakrapani, Anupam;
    • Batzios, Spyros;
    • Davison, James
    Publication type:
    Article
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    Datamining approaches for examining the low prevalence of N‐acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 6, p. 1175, doi. 10.1002/jimd.12687
    By:
    • Caldovic, Ljubica;
    • Ahn, Julie J.;
    • Andricovic, Jacklyn;
    • Balick, Veronica M.;
    • Brayer, Mallory;
    • Chansky, Pamela A.;
    • Dawson, Tyson;
    • Edwards, Alex C.;
    • Felsen, Sara E.;
    • Ismat, Karim;
    • Jagannathan, Sveta V.;
    • Mann, Brendan T.;
    • Medina, Jacob A.;
    • Morizono, Toshio;
    • Morizono, Michio;
    • Salameh, Shatha;
    • Vashist, Neerja;
    • Williams, Emily C.;
    • Zhou, Zhe;
    • Morizono, Hiroki
    Publication type:
    Article
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    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 6, p. 1, doi. 10.1002/jimd.12632
    Publication type:
    Article