Works matching IS 01418955 AND DT 2024 AND VI 47 AND IP 5

Results: 23
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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
    3

    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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    13

    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
    22

    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
    23

    Issue Information.

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