Works matching IS 01418955 AND DT 2024 AND VI 47

Results: 113
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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
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    The natural history of dihydrolipoamide dehydrogenase deficiency in Israel.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 5, p. 895, doi. 10.1002/jimd.12778
    By:
    • Pode‐Shakked, Ben;
    • Landau, Yuval E.;
    • Shaul Lotan, Nava;
    • Manor, Joshua;
    • Haham, Nitsan;
    • Kristal, Eyal;
    • Hershkovitz, Eli;
    • Hazan, Guy;
    • Haham, Yarden;
    • Almashanu, Shlomo;
    • Anikster, Yair;
    • Staretz‐Chacham, Orna
    Publication type:
    Article
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    New variants expand the neurological phenotype of COQ7 deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 5, p. 1047, doi. 10.1002/jimd.12776
    By:
    • Fabra, María Alcázar;
    • Paredes‐Fuentes, Abraham J.;
    • Torralba Carnerero, Manuel;
    • Moreno Férnandez de Ayala, Daniel J.;
    • Arroyo Luque, Antonio;
    • Sánchez Cuesta, Ana;
    • Staiano, Carmine;
    • Sanchez‐Pintos, Paula;
    • Luz Couce, María;
    • Tomás, Miguel;
    • Marco‐Hernández, Ana Victoria;
    • Orellana, Carmen;
    • Martínez, Francisco;
    • Roselló, Mónica;
    • Caro, Alfonso;
    • Oltra Soler, Juan Silvestre;
    • Monfort, Sandra;
    • Sánchez, Alejandro;
    • Rausell, Dolores;
    • Vitoria, Isidro
    Publication type:
    Article
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    MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 5, p. 1028, doi. 10.1002/jimd.12764
    By:
    • Hammann, Nicole;
    • Lenz, Dominic;
    • Bianzano, Alyssa;
    • Husain, Ralf A.;
    • Forman, Eva;
    • Bernstein, Jonathan A.;
    • Dattner, Tal;
    • Engelen, Marc;
    • Hanson‐Kahn, Andrea K.;
    • Isidor, Bertrand;
    • Kotzaeridou, Urania;
    • Tietze, Anna;
    • Trollmann, Regina;
    • Weiß, Claudia;
    • Wolffenbuttel, Bruce H. R.;
    • Kölker, Stefan;
    • Hoffmann, Georg F.;
    • Crushell, Ellen;
    • Staufner, Christian;
    • Mohr, Alexander
    Publication type:
    Article
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    Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 5, p. 971, doi. 10.1002/jimd.12755
    By:
    • Swanson, Michael A.;
    • Jiang, Hua;
    • Busquet, Nicolas;
    • Carlsen, Jessica;
    • Brindley, Connie;
    • Benke, Tim A.;
    • Van Hove, Roxanne A.;
    • Friederich, Marisa W.;
    • MacLean, Kenneth N.;
    • Mesches, Michael H.;
    • Van Hove, Johan L. K.
    Publication type:
    Article
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    Long‐term personalized high‐protein, high‐fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 5, p. 1001, doi. 10.1002/jimd.12741
    By:
    • Kalkan Uçar, Sema;
    • Altınok, Yasemin Atik;
    • Mansuroglu, Yelda;
    • Canda, Ebru;
    • Yazıcı, Havva;
    • Çelik, Merve Yoldaş;
    • Erdem, Fehime;
    • Yanbolu, Ayşe Yüksel;
    • Ülger, Zülal;
    • Çoker, Mahmut
    Publication type:
    Article
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    Nucleotide metabolism, leukodystrophies, and CNS pathology.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 5, p. 860, doi. 10.1002/jimd.12721
    By:
    • Gavazzi, Francesco;
    • Gonzalez, Carlos Dominguez;
    • Arnold, Kaley;
    • Swantkowski, Meghan;
    • Charlton, Lauren;
    • Modesti, Nicholson;
    • Dar, Asif A.;
    • Vanderver, Adeline;
    • Bennett, Mariko;
    • Adang, Laura A.
    Publication type:
    Article
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    From skin lesions to tyrosinemia type II diagnosis.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 5, p. 1107, doi. 10.1002/jimd.12720
    By:
    • da Silva, Inês S. F.;
    • Sopa, Inês;
    • Gomes, Daniel;
    • Peixoto, Lígia;
    • Oliveira, Anabela
    Publication type:
    Article
    43

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 5, p. 1, doi. 10.1002/jimd.12631
    Publication type:
    Article
    44

    Abstracts.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, p. 1, doi. 10.1002/jimd.12788
    Publication type:
    Article
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    Regulatory news: Olipudase alfa‐rpcp (Xenpozyme™) for treatment of non‐central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric patients—FDA Approval summary.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 575, doi. 10.1002/jimd.12754
    By:
    • Hon, Yuen Yi;
    • Zaidi, Anita;
    • Giffin, Andrew;
    • Wang, Yan;
    • Lei, Nie;
    • Hossain, Md Nayeem;
    • Wang, Jie;
    • Li, Hongshan;
    • Liu, Guansheng;
    • Liu, Jiang;
    • Yang, Yuching;
    • Zhu, Hao;
    • Pacanowski, Michael;
    • McLeod‐Flynn, Laurie;
    • Summan, Mukesh;
    • Liu, Yongmin;
    • Sheikh, Faruk;
    • Dickensheets, Harold;
    • Kim, Jennifer;
    • McWilliams, Ian
    Publication type:
    Article
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    Regulatory news: Cipaglucosidase alfa‐atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late‐onset Pompe disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 578, doi. 10.1002/jimd.12744
    By:
    • Luquetti, Daniela V.;
    • Jeng, Linda J. B.;
    • Donohue, Kathleen M.;
    • Maynard, Janet W.;
    • Morris, Emily;
    • Wang, Yan;
    • Nie, Lei;
    • Adeniyi, Oluseyi;
    • Ready, Travis;
    • Li, RuoJing;
    • Wang, Jie;
    • Liu, Jiang;
    • Pacanowski, Michael;
    • McNerney, Mary Ellen;
    • Akinshola, B. Emmanuel;
    • McLeod‐Flynn, Laurie;
    • Weis, Shawna;
    • Summan, Mukesh;
    • Namuswe, Frances;
    • Shafiei, Hamid
    Publication type:
    Article
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