Works about MELAS syndrome

Results: 620
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    P-33 A rare form of diabetes: MELAS.

    Published in:
    JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.036
    By:
    • Akçay, Seçkin;
    • Kapan, Ece;
    • Yavuz, Dilek
    Publication type:
    Article
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    Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome.

    Published in:
    Journal of Clinical Medicine, 2023, v. 12, n. 6, p. 2435, doi. 10.3390/jcm12062435
    By:
    • Bermejo-Guerrero, Laura;
    • de Fuenmayor-Fernández de la Hoz, Carlos Pablo;
    • Guerrero-Molina, María Paz;
    • Martín-Jiménez, Paloma;
    • Blázquez, Alberto;
    • Serrano-Lorenzo, Pablo;
    • Lora, David;
    • Morales-Conejo, Montserrat;
    • González-Martínez, Irene;
    • López-Jiménez, Elena Ana;
    • Martín, Miguel A.;
    • Domínguez-González, Cristina
    Publication type:
    Article
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    Mitochondrial Syndromes Revisited.

    Published in:
    Journal of Clinical Medicine, 2021, v. 10, n. 6, p. 1249, doi. 10.3390/jcm10061249
    By:
    • Orsucci, Daniele;
    • Caldarazzo Ienco, Elena;
    • Rossi, Andrea;
    • Siciliano, Gabriele;
    • Mancuso, Michelangelo;
    • Lee-Huang, Sylvia;
    • Garrabou, Glòria
    Publication type:
    Article
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    Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy.

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 788, doi. 10.3390/jcm9030788
    By:
    • Kipper, Karin;
    • Hecht, Max;
    • Antunes, Natalicia J.;
    • Fairbanks, Lynette D.;
    • Levene, Michelle;
    • Kalkan Uçar, Sema;
    • Schaefer, Andrew;
    • Blakely, Emma L.;
    • Bax, Bridget E.
    Publication type:
    Article
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    ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 9, p. 1374, doi. 10.3390/jcm8091374
    By:
    • Vázquez-Fonseca, Luis;
    • Schäefer, Jochen;
    • Navas-Enamorado, Ignacio;
    • Santos-Ocaña, Carlos;
    • Hernández-Camacho, Juan D.;
    • Guerra, Ignacio;
    • Cascajo, María V.;
    • Sánchez-Cuesta, Ana;
    • Horvath, Zoltan;
    • Siendones, Emilio;
    • Jou, Cristina;
    • Casado, Mercedes;
    • Gutierrez-Rios, Purificación;
    • Brea-Calvo, Gloria;
    • López-Lluch, Guillermo;
    • Fernández-Ayala, Daniel J.M.;
    • Cortés, Ana B.;
    • Rodríguez-Aguilera, Juan C.;
    • Matté, Cristiane;
    • Ribes, Antonia
    Publication type:
    Article
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    Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 8, p. 1096, doi. 10.3390/jcm8081096
    By:
    • Bax, Bridget E.;
    • Levene, Michelle;
    • Bain, Murray D.;
    • Fairbanks, Lynette D.;
    • Filosto, Massimiliano;
    • Kalkan Uçar, Sema;
    • Klopstock, Thomas;
    • Kornblum, Cornelia;
    • Mandel, Hanna;
    • Rahman, Shamima;
    • Roubertie, Agathe;
    • Scarpelli, Mauro;
    • Sedgwick, Philip M.;
    • Baru, Moshe;
    • Sellos-Moura, Marcia;
    • Price, Jeanie;
    • Horn, Patrick;
    • Nirmalananthan, Niranjanan
    Publication type:
    Article
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    Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1).

    Published in:
    Journal of Clinical Medicine, 2018, v. 7, n. 11, p. 389, doi. 10.3390/jcm7110389
    By:
    • Filosto, Massimiliano;
    • Cotti Piccinelli, Stefano;
    • Caria, Filomena;
    • Gallo Cassarino, Serena;
    • Baldelli, Enrico;
    • Galvagni, Anna;
    • Volonghi, Irene;
    • Scarpelli, Mauro;
    • Padovani, Alessandro
    Publication type:
    Article
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    Impaired Hearing in MELAS.

    Published in:
    Journal of International Advanced Otology, 2022, v. 18, n. 3, p. 276, doi. 10.5152/iao.2022.22750
    By:
    • Finsterer, Josef;
    • Crundwell, Gemma;
    • Kullar, Peter;
    • Bance, Manohar
    Publication type:
    Article
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