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An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Molecular Genetics and Metabolism, 2017 S. Mosegaard, G. H. Bruun, Karen Freund Flyvbjerg, Y. Bliksrud, N. Gregersen, M. Dembic, E. Annexstad, T. Tangeraas, R. Olsen, B. Andresen +9 moresemanticscholar +1 more sourcePatient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy
Neuromuscular Disorders, 2017 M. Auranen, Anders Paetau, P. Piirilä, A. Pohju, Tapani Salmi, Antti Lamminen, M. Löfberg, S. Mosegaard, Rikke K.J. Olsen, T. Tyni, T. Tyni +10 moresemanticscholar +1 more source