Works matching Maple syrup urine disease (MSUD)

Results: 232
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    Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1089, doi. 10.1002/jimd.12662
    By:
    • Skvorak, Kristen;
    • Liu, Joyce;
    • Kruse, Nikki;
    • Mehmood, Roasa;
    • Das, Subhamoy;
    • Jenne, Stephan;
    • Chng, Chinping;
    • Lao, U. Loi;
    • Duan, Da;
    • Asfaha, Jonathan;
    • Du, Faye;
    • Teadt, Leann;
    • Sero, Antionette;
    • Ching, Charlene;
    • Riggins, James;
    • Pope, Lianne;
    • Yan, Ping;
    • Mashiana, Harminder;
    • Ismaili, Moulay Hicham Alaoui;
    • McCluskie, Kerryn
    Publication type:
    Article
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    Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 110, doi. 10.1002/jmd2.12207
    By:
    • de Lonlay, Pascale;
    • Posset, Roland;
    • Mütze, Ulrike;
    • Mention, Karine;
    • Lamireau, Delphine;
    • Schiff, Manuel;
    • Servais, Aude;
    • Arnoux, Jean Baptiste;
    • Brassier, Anaïs;
    • Dao, Myriam;
    • Douillard, Claire;
    • Ottolenghi, Chris;
    • Pontoizeau, Clément;
    • Miotto, Federica;
    • Le Mouhaër, Jeannie
    Publication type:
    Article
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    Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
    By:
    • Pontoizeau, Clément;
    • Simon-Sola, Marcelo;
    • Gaborit, Clovis;
    • Nguyen, Vincent;
    • Rotaru, Irina;
    • Tual, Nolan;
    • Colella, Pasqualina;
    • Girard, Muriel;
    • Biferi, Maria-Grazia;
    • Arnoux, Jean-Baptiste;
    • Rötig, Agnès;
    • Ottolenghi, Chris;
    • de Lonlay, Pascale;
    • Mingozzi, Federico;
    • Cavazzana, Marina;
    • Schiff, Manuel
    Publication type:
    Article
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    Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
    By:
    • Pontoizeau, Clément;
    • Simon-Sola, Marcelo;
    • Gaborit, Clovis;
    • Nguyen, Vincent;
    • Rotaru, Irina;
    • Tual, Nolan;
    • Colella, Pasqualina;
    • Girard, Muriel;
    • Biferi, Maria-Grazia;
    • Arnoux, Jean-Baptiste;
    • Rötig, Agnès;
    • Ottolenghi, Chris;
    • de Lonlay, Pascale;
    • Mingozzi, Federico;
    • Cavazzana, Marina;
    • Schiff, Manuel
    Publication type:
    Article
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    Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
    By:
    • Pontoizeau, Clément;
    • Simon-Sola, Marcelo;
    • Gaborit, Clovis;
    • Nguyen, Vincent;
    • Rotaru, Irina;
    • Tual, Nolan;
    • Colella, Pasqualina;
    • Girard, Muriel;
    • Biferi, Maria-Grazia;
    • Arnoux, Jean-Baptiste;
    • Rötig, Agnès;
    • Ottolenghi, Chris;
    • de Lonlay, Pascale;
    • Mingozzi, Federico;
    • Cavazzana, Marina;
    • Schiff, Manuel
    Publication type:
    Article
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    BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.

    Published in:
    Science Translational Medicine, 2025, v. 17, n. 787, p. 1, doi. 10.1126/scitranslmed.ads0539
    By:
    • Wang, Jiaming;
    • Poskitt, Laura E.;
    • Gallagher, Jillian;
    • Puffenberger, Erik G.;
    • Wynn, R. Max;
    • Shishodia, Gauri;
    • Chuang, David T.;
    • Beever, Jonathan;
    • Hardin, Donald L.;
    • Brigatti, Karlla W.;
    • Baker, William C.;
    • Gately, Rachael;
    • Bertrand, Stephanie;
    • Rodrigues, Ashlin;
    • Benatti, Hector R;
    • Taghian, Toloo;
    • Hall, Erin;
    • Prestigiacomo, Rachel;
    • Liang, Jialing;
    • Chen, Gong
    Publication type:
    Article
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    Acrodermatitis dismetabólica.

    Published in:
    Revista Mexicana de Pediatria, 2023, v. 90, n. 4, p. 162, doi. 10.35366/114767
    By:
    • Rivera-Comparán, Erick Alberto;
    • Aidé Santillán-García, Mayra;
    • Gómez-Negrete, Alonso;
    • Peregrino-Bejarano, Leoncio;
    • Nallely Zurita-Cruz, Jessie
    Publication type:
    Article
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    Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.

    Published in:
    2020
    By:
    • Margutti, Ana Vitoria Barban;
    • Silva, Wilson Araújo;
    • Garcia, Daniel Fantozzi;
    • de Molfetta, Greice Andreotti;
    • Marques, Adriana Aparecida;
    • Amorim, Tatiana;
    • Prazeres, Vânia Mesquita Gadelha;
    • Boy da Silva, Raquel Tavares;
    • Miura, Irene Kazue;
    • Seda Neto, João;
    • Santos, Emerson de Santana;
    • Santos, Mara Lúcia Schmitz Ferreira;
    • Lourenço, Charles Marques;
    • Tonon, Tássia;
    • Sperb-Ludwig, Fernanda;
    • de Souza, Carolina Fischinger Moura;
    • Schwartz, Ida Vanessa Döederlein;
    • Camelo, José Simon;
    • Silva, Wilson Araújo Jr;
    • Camelo, José Simon Jr
    Publication type:
    journal article
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