Works matching Maple syrup urine disease (MSUD)

Results: 230
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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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    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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    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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    A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.

    Published in:
    Genes, 2022, v. 13, n. 2, p. 233, doi. 10.3390/genes13020233
    By:
    • Maguolo, Alice;
    • Rodella, Giulia;
    • Giorgetti, Alejandro;
    • Nicolodi, Marion;
    • Ribeiro, Rui;
    • Dianin, Alice;
    • Cantalupo, Gaetano;
    • Monge, Irene;
    • Carcereri, Sarah;
    • De Bernardi, Margherita Lucia;
    • Delledonne, Massimo;
    • Pasini, Andrea;
    • Campostrini, Natascia;
    • Ion Popa, Florina;
    • Piacentini, Giorgio;
    • Teofoli, Francesca;
    • Vincenzi, Monica;
    • Camilot, Marta;
    • Bordugo, Andrea
    Publication type:
    Article
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    Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03533-6
    By:
    • Rostampour, Noushin;
    • Dalili, Setila;
    • Moravej, Hossein;
    • Afshar, Zhila;
    • Yazdani, Negar;
    • Mousavi, Seyedeh Tahereh;
    • Rostami, Parastoo;
    • Zamanfar, Daniel;
    • Yahay, Maryam;
    • Nikravesh, Abdolhossein;
    • Beyzaei, Zahra;
    • Davoodi, Mohamad Ahangar;
    • Sedaghat, Atefeh;
    • Hakemzadeh, Tahora;
    • Talea, Ali
    Publication type:
    Article
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    Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12850, doi. 10.3390/ijms232112850
    By:
    • Soriano-Sexto, Alejandro;
    • Gallego, Diana;
    • Leal, Fátima;
    • Castejón-Fernández, Natalia;
    • Navarrete, Rosa;
    • Alcaide, Patricia;
    • Couce, María L.;
    • Martín-Hernández, Elena;
    • Quijada-Fraile, Pilar;
    • Peña-Quintana, Luis;
    • Yahyaoui, Raquel;
    • Correcher, Patricia;
    • Ugarte, Magdalena;
    • Rodríguez-Pombo, Pilar;
    • Pérez, Belén
    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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