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Glycogen storage diseases.
Hannah WB, Derks TGJ, Drumm ML, Grünert SC, Kishnani PS, Vissing J. Hannah WB, et al. Among authors: vissing j. Nat Rev Dis Primers. 2023 Sep 7;9(1):46. doi: 10.1038/s41572-023-00456-z. Nat Rev Dis Primers. 2023. PMID: 37679331 Review.
Diagnosis and management of metabolic myopathies.
Bhai SF, Vissing J. Bhai SF, et al. Among authors: vissing j. Muscle Nerve. 2023 Sep;68(3):250-256. doi: 10.1002/mus.27840. Epub 2023 May 25. Muscle Nerve. 2023. PMID: 37226557
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.
Karazi W, Scalco RS, Stemmerik MG, Løkken N, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, Toscano A, Musumeci O, Kouwenberg CV, Laforêt P, Millán BS, Vieitez I, Siciliano G, Kühnle E, Trost R, Sacconi S, Durmus H, Kierdaszuk B, Wakelin A, Andreu AL, Pinós T, Marti R, Quinlivan R, Vissing J, Voermans NC; EUROMAC Consortium. Karazi W, et al. Among authors: vissing j. Orphanet J Rare Dis. 2023 Jul 25;18(1):210. doi: 10.1186/s13023-023-02825-z. Orphanet J Rare Dis. 2023. PMID: 37488619 Free PMC article.
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Karaa A, Bertini E, Carelli V, Cohen B, Ennes GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Abbruscato A, Brown DA, Sullivan A, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: vissing j. Orphanet J Rare Dis. 2024 Nov 21;19(1):431. doi: 10.1186/s13023-024-03421-5. Orphanet J Rare Dis. 2024. PMID: 39574155 Free PMC article. Clinical Trial.
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.
Karazi W, Coppers J, Maas D, Cup E, Bloemen B, Voet N, Groothuis JT, Pinós T, Marti Seves R, Quinlivan R, Løkken N, Vissing J, Bhai S, Wakelin A, Reason S, Voermans NC. Karazi W, et al. Among authors: vissing j. J Neuromuscul Dis. 2024;11(1):103-116. doi: 10.3233/JND-230027. J Neuromuscul Dis. 2024. PMID: 38108358 Free PMC article.
470 results