ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Olsen, Rikke K. J., Olpin, Simon E., Andresen, Brage S., Miedzybrodzka, Zofia H., Pourfarzam, Morteza, Merinero, Begoña, Frerman, Frank E., Beresford, Michael W., Dean, John C. S., Cornelius, Nanna, Andersen, Oluf, Oldfors, Anders, Holme, Elisabeth, Gregersen, Niels, Turnbull, Douglass M., Morris, Andrew A. M.
Published in Brain (London, England : 1878) (01.08.2007)
Published in Brain (London, England : 1878) (01.08.2007)
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Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency
CORNELIUS, Nanna, FRERMAN, Frank E, CORYDON, Thomas J, PALMFELDT, Johan, BROSS, Peter, GREGERSEN, Niels, OLSEN, Rikke K. J
Published in Human molecular genetics (01.08.2012)
Published in Human molecular genetics (01.08.2012)
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Journal Article
Mitochondrial fatty acid oxidation defects—remaining challenges
Gregersen, Niels, Andresen, Brage S., Pedersen, Christina B., Olsen, Rikke K. J., Corydon, Thomas J., Bross, Peter
Published in Journal of inherited metabolic disease (01.10.2008)
Published in Journal of inherited metabolic disease (01.10.2008)
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Journal Article
Presentation
Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency
Cornelius, Nanna, Byron, Colleen, Hargreaves, Iain, Guerra, Paula Fernandez, Furdek, Andrea K, Land, John, Radford, Weston W, Frerman, Frank, Corydon, Thomas J, Gregersen, Niels, Olsen, Rikke K J
Published in Human molecular genetics (01.10.2013)
Published in Human molecular genetics (01.10.2013)
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Human inborn errors of long‐chain fatty acid oxidation show impaired inflammatory responses to TLR4‐ligand LPS
Mosegaard, Signe, Twayana, Krishna S., Denis, Simone W., Kroon, Jeffrey, Schomakers, Bauke V., Weeghel, Michel, Houtkooper, Riekelt H., Olsen, Rikke K. J., Holm, Christian K.
Published in FASEB bioAdvances (01.09.2024)
Published in FASEB bioAdvances (01.09.2024)
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Journal Article
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study
Borgwardt, L., Dali, C. I., Fogh, J., Månsson, J. E., Olsen, K. J., Beck, H. C., Nielsen, K. G., Nielsen, L. H., Olsen, S. O. E., Riise Stensland, H. M. F., Nilssen, O., Wibrand, F., Thuesen, A. M., Pearl, T., Haugsted, U., Saftig, P., Blanz, J., Jones, S. A., Tylki-Szymanska, A., Guffon-Fouiloux, N., Beck, M., Lund, A. M.
Published in Journal of inherited metabolic disease (01.11.2013)
Published in Journal of inherited metabolic disease (01.11.2013)
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Disease mechanisms and protein structures in fatty acid oxidation defects
Gregersen, Niels, Olsen, Rikke K. J
Published in Journal of inherited metabolic disease (01.10.2010)
Published in Journal of inherited metabolic disease (01.10.2010)
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Journal Article
Bioenergetic and Proteomic Profiling of Immune Cells in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients: An Exploratory Study
Fernandez-Guerra, Paula, Gonzalez-Ebsen, Ana C, Boonen, Susanne E, Courraud, Julie, Gregersen, Niels, Mehlsen, Jesper, Palmfeldt, Johan, Olsen, Rikke K J, Brinth, Louise Schouborg
Published in Biomolecules (Basel, Switzerland) (29.06.2021)
Published in Biomolecules (Basel, Switzerland) (29.06.2021)
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A direct comparison of the pharmacodynamic properties of insulin detemir and neutral protamine lispro insulin in patients with type 1 diabetes
Korsatko, S., Glettler, K., Olsen, K. J., Wutte, A., Bock, G., Koehler, G., Mader, J. K., Semlitsch, B., Pieber, T. R.
Published in Diabetes, obesity & metabolism (01.03.2013)
Published in Diabetes, obesity & metabolism (01.03.2013)
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Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening
Sykut-Cegielska, Jolanta, Gradowska, Wanda, Piekutowska-Abramczuk, Dorota, Andresen, Brage S, Olsen, Rikke K. J, Ołtarzewski, Mariusz, Pronicki, Maciej, Pajdowska, Magdalena, Bogdańska, Anna, Jabłońska, Ewa, Radomyska, Barbara, Kuśmierska, Katarzyna, Krajewska-Walasek, Małgorzata, Gregersen, Niels, Pronicka, Ewa
Published in Journal of inherited metabolic disease (01.02.2011)
Published in Journal of inherited metabolic disease (01.02.2011)
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Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function
Borgwardt, L., Danielsen, E.R., Thomsen, C., Månsson, J.E., Taouatas, N., Thuesen, A.M., Olsen, K.J., Fogh, J., Dali, C.I., Lund, A.M.
Published in Clinical genetics (01.04.2016)
Published in Clinical genetics (01.04.2016)
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Journal Article
FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening
Muru, Kai, Reinson, Karit, Künnapas, Kadi, Lilleväli, Hardo, Nochi, Zahra, Mosegaard, Signe, Pajusalu, Sander, Olsen, Rikke K. J., Õunap, Katrin
Published in Molecular genetics & genomic medicine (01.09.2019)
Published in Molecular genetics & genomic medicine (01.09.2019)
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Journal Article
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency
Olpin, S. E., Clark, S., Andresen, B. S., Bischoff, C., Olsen, R. K. J., Gregersen, N., Chakrapani, A., Downing, M., Manning, N. J., Sharrard, M., Bonham, J. R., Muntoni, F., Turnbull, D. N., Pourfarzam, M.
Published in Journal of inherited metabolic disease (01.08.2005)
Published in Journal of inherited metabolic disease (01.08.2005)
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Journal Article
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B
Ho, Gladys, Yonezawa, Atsushi, Masuda, Satohiro, Inui, Ken-ichi, Sim, Keow G., Carpenter, Kevin, Olsen, Rikke K.J., Mitchell, John J., Rhead, William J., Peters, Gregory, Christodoulou, John
Published in Human mutation (01.01.2011)
Published in Human mutation (01.01.2011)
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Journal Article
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts
García‐Villoria, Judit, De Azua, Begoña, Tort, Frederic, Mosegaard, Signe, Ugarteburu, Olatz, Texidó, Laura, Morales‐Romero, Blai, Olsen, Rikke K.J., Ribes, Antonia
Published in Clinical genetics (01.12.2018)
Published in Clinical genetics (01.12.2018)
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Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland — Experience and development of a routine program for expanded newborn screening
Lund, Allan Meldgaard, Hougaard, David Michael, Simonsen, Henrik, Andresen, Brage Storstein, Christensen, Mette, Dunø, Morten, Skogstrand, Kristin, Olsen, Rikke K.J., Jensen, Ulrich Glümer, Cohen, Arieh, Larsen, Nanna, Saugmann-Jensen, Peter, Gregersen, Niels, Brandt, Niels Jacob, Christensen, Ernst, Skovby, Flemming, Nørgaard-Pedersen, Bent
Published in Molecular genetics and metabolism (01.11.2012)
Published in Molecular genetics and metabolism (01.11.2012)
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Journal Article
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency
Edhager, Anders V., Stenbroen, Vibeke, Nielsen, Nadia Sukusu, Bross, Peter, Olsen, Rikke K.J., Gregersen, Niels, Palmfeldt, Johan
Published in Molecular genetics and metabolism (01.03.2014)
Published in Molecular genetics and metabolism (01.03.2014)
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Journal Article
Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis
Borgwardt, L., Thuesen, A. M., Olsen, K. J., Fogh, J., Dali, C. I., Lund, A. M.
Published in Journal of inherited metabolic disease (01.11.2015)
Published in Journal of inherited metabolic disease (01.11.2015)
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