| Riboflavin-responsive and-non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency RKJ Olsen, E Koňaříková, TA Giancaspero, S Mosegaard, V Boczonadi, ... The American Journal of Human Genetics 98 (6), 1130-1145, 2016 | 130 | 2016 |
| Riboflavin deficiency—implications for general human health and inborn errors of metabolism S Mosegaard, G Dipace, P Bross, J Carlsen, N Gregersen, RKJ Olsen International Journal of Molecular Sciences 21 (11), 3847, 2020 | 119 | 2020 |
| Clinical implementation of RNA sequencing for Mendelian disease diagnostics VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ... Genome medicine 14 (1), 38, 2022 | 97 | 2022 |
| An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency S Mosegaard, GH Bruun, KF Flyvbjerg, YT Bliksrud, N Gregersen, ... Molecular Genetics and Metabolism 122 (4), 182-188, 2017 | 47 | 2017 |
| Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy M Auranen, A Paetau, P Piirilä, A Pohju, T Salmi, A Lamminen, M Löfberg, ... Neuromuscular Disorders 27 (6), 581-584, 2017 | 25 | 2017 |
| FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening K Muru, K Reinson, K Künnapas, H Lilleväli, Z Nochi, S Mosegaard, ... Molecular Genetics & Genomic Medicine 7 (9), e915, 2019 | 18 | 2019 |
| FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts J García-Villoria, B De Azua, F Tort, S Mosegaard, O Ugarteburu, L Texidó, ... Clinical genetics 94 (6), 592-593, 2018 | 10 | 2018 |
| Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria? S Fogh, G Dipace, A Bie, M Veiga‐da‐Cunha, J Hansen, M Kjeldsen, ... Journal of inherited metabolic disease 44 (5), 1215-1225, 2021 | 3 | 2021 |
| Tracer-based lipidomics identifies novel disease-specific biomarkers in mitochondrial β-oxidation disorders M Schwantje, S Mosegaard, SJG Knottnerus, JB van Klinken, RJ Wanders, ... bioRxiv, 2023.08. 31.555571, 2023 | 1 | 2023 |
| Challenging transitions ND Wasalathanthri, SSA Zaidi, E Mahrt, S Srivastava, KH Yu, ... Science 363 (6422), 24-26, 2019 | 1 | 2019 |
| Human inborn errors of long-chain fatty acid oxidation show impaired inflammatory responses to TLR4-ligand LPS S Mosegaard, K Twayana, S Denis, J Kroon, BV Schomakers, ... bioRxiv, 2023.08. 30.555512, 2023 | | 2023 |
| Impaired IL-6 production upon LPS stimulation in Fatty Acid Oxidation Disorders S Mosegaard, K Twayana, S Denis, J Kroon, R Olsen, R Houtkooper, ... Scandinavian Journal Of Immunology 94 (6), 2021 | | 2021 |
| Trust yourself S Mosegaard Science 363 (6422), 25-25, 2019 | | 2019 |
| Non-Loss-of-Function Frameshift Variants in the FAD Synthase Gene Cause Combined Respiratory Chain Deficiency RK Olsen, TA Giancaspero, S Mosegaard, V Boczonadi, L Matakovic, ... | | 2016 |
| Non-Loss-of-Function Frameshift Variants in the FAD Synthase Gene Cause Combined Respiratory Chain Deficiency E Holzerová, RKJ Olsen, TA Giancaspero, S Mosegaard, V Boczonadi, ... Biochimica et Biophysica Acta (BBA)-Bioenergetics, e95, 2016 | | 2016 |
| Flavin-sensitive variant FAD Synthases underlying riboflavin responsive Multiple Acyl-CoA Dehydrogenation Deficiency. S Mosegaard, TA Giancaspero, M Galluccio, P Leone, A Boneh, ... 19th European Bioenergetics Conference (EBEC 2016, July 2-7, 2016, Riva del …, 2016 | | 2016 |
| 18. Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to deletion of p. ser495 in the FAD synthase. S Mosegaard, A Boneh, TA Giancaspero, A Bache, H Buch, C Andreasen, ... JOURNAL OF INHERITED METABOLIC DISEASE 37 (Supplement Issue 1), 2014 | | 2014 |
| Locus heterogeneity in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency S Mosegaard, SE Olpin, MJ Sharrard, NJ Manning, A Boneh, K Ryan, ... | | 2013 |
Peter BrossResearch Unit for Molecular Medicine, Aarhus University HospitalVerified email at clin.au.dk
