Works matching IS 01418955 AND DT 2025 AND VI 48 AND IP 3

Results: 21
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    Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient‐Derived Liver Disease Models.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 3, p. 1, doi. 10.1002/jimd.70043
    By:
    • Ramosaj, Adhuresa;
    • Borsuk, Mariia;
    • Underhaug, Jarl;
    • Mathis, Déborah;
    • Matsumoto, Shirou;
    • Keogh, Adrian;
    • Banz, Vanessa;
    • Pandey, Amit V.;
    • Gougeard, Nadine;
    • Rubio, Vicente;
    • Martinez, Aurora;
    • Allegri, Gabriella;
    • Poms, Martin;
    • Thöny, Beat;
    • Häberle, Johannes;
    • Laemmle, Alexander
    Publication type:
    Article
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    State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 3, p. 1, doi. 10.1002/jimd.70040
    By:
    • Derks, Terry G. J.;
    • Overduin, Ruben J.;
    • Grünert, Sarah C.;
    • Rossi, Alessandro;
    • de Oliveira, Bibiana M.;
    • Park, Julien H.;
    • Weinstein, David;
    • De Leon, Diva D.;
    • Landau, Yuval E.;
    • La Rosa, Alessandro;
    • Cohen, Damian;
    • Schumann, Anke;
    • Kwun, Anne Kwok Mei;
    • Kang, Yunkoo;
    • de Boer, Foekje;
    • Clemente, María;
    • Smith, Wendy E.;
    • Breilyn, Margo Sheck;
    • Riba‐Wolman, Rebecca;
    • Loechner, Karen
    Publication type:
    Article
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    Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 3, p. 1, doi. 10.1002/jimd.70037
    By:
    • Nguyen, Yann;
    • Beydon, Maxime;
    • Yousfi, Karima;
    • Zebiche, Samira;
    • Hamroun, Dalil;
    • Brassier, Anaïs;
    • Pichard, Samia;
    • Swiader, Laure;
    • Billette de Villemeur, Thierry;
    • Héron, Bénédicte;
    • Dalbies, Florence;
    • Cador, Bérengère;
    • Guemann, Anne‐Sophie;
    • Gaches, Francis;
    • Hivert, Bénédicte;
    • Leguy‐Seguin, Vanessa;
    • Masseau, Agathe;
    • Deshayes, Robin;
    • Pers, Yves‐Marie;
    • Pettazzoni, Magali
    Publication type:
    Article
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    Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 3, p. 1, doi. 10.1002/jimd.70035
    By:
    • Hammann, Nicole;
    • Staufner, Christian;
    • Schlieben, Lea Dewi;
    • Dezsőfi‐Gottl, Antal;
    • Feichtinger, René G.;
    • Häberle, Johannes;
    • Junge, Norman;
    • Konstantopoulou, Vassiliki;
    • Kopajtich, Robert;
    • McLin, Valérie;
    • Rymen, Daisy;
    • Slavetinsky, Christoph;
    • Sturm, Ekkehard;
    • Mayr, Johannes A.;
    • Wagner, Matias;
    • Kölker, Stefan;
    • Prokisch, Holger;
    • Hoffmann, Georg F.;
    • Lenz, Dominic
    Publication type:
    Article
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    YME1L1 Dysfunction Associated With 3‐Methylglutaconic Aciduria.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 3, p. 1, doi. 10.1002/jimd.70029
    By:
    • Demetriadou, Anthi;
    • Grafakou, Olga;
    • Georgiou, Theodoros;
    • Burska, Daniela;
    • Malekkou, Anna;
    • Krizova, Jana;
    • Paramera, Efstathia;
    • Mavrikiou, Gavriella;
    • Dionysiou, Maria;
    • Theodosiou, Athina;
    • Sismani, Carolina;
    • Anastasiadou, Violetta;
    • Ioannou, Ioannis;
    • Papakonstantinou, Evangelos;
    • Hansikova, Hana;
    • Drousiotou, Anthi;
    • Petrou, Petros P.
    Publication type:
    Article
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    Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 3, p. 1, doi. 10.1002/jimd.12790
    By:
    • Muenzer, Joseph;
    • Burton, Barbara K.;
    • Harmatz, Paul;
    • Gutiérrez‐Solana, Luis González;
    • Ruiz‐Garcia, Matilde;
    • Jones, Simon A.;
    • Guffon, Nathalie;
    • Inbar‐Feigenberg, Michal;
    • Bratkovic, Drago;
    • Rust, Stewart;
    • Hale, Michael;
    • Wu, Yuna;
    • Yee, Karen S.;
    • Whiteman, David A. H.;
    • Alexanderian, David
    Publication type:
    Article
    21

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 3, p. 1, doi. 10.1002/jimd.12759
    Publication type:
    Article