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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Presentation
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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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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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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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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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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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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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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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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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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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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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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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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A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland
Piekutowska-Abramczuk, Dorota, Olsen, Rikke K. J., Wierzba, Jolanta, Popowska, Ewa, Jurkiewicz, Dorota, Ciara, Elżbieta, Ołtarzewski, Mariusz, Gradowska, Wanda, Sykut-Cegielska, Jolanta, Krajewska-Walasek, Małgorzata, Andresen, Brage S., Gregersen, Niels, Pronicka, Ewa
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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Odd- and even-numbered medium-chained fatty acids protect against glutathione depletion in very long-chain acyl-CoA dehydrogenase deficiency
Lund, Martin, Heaton, Robert, Hargreaves, Iain P., Gregersen, Niels, Olsen, Rikke K.J.
Published in Biochimica et biophysica acta. Molecular and cell biology of lipids (01.02.2023)
Published in Biochimica et biophysica acta. Molecular and cell biology of lipids (01.02.2023)
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Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency
Lund, Martin, Andersen, Kathrine G., Heaton, Robert, Hargreaves, Iain P., Gregersen, Niels, Olsen, Rikke K.J.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.06.2021)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.06.2021)
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Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2
Tolomeo, Maria, Chimienti, Guglielmina, Lanza, Martina, Barbaro, Roberto, Nisco, Alessia, Latronico, Tiziana, Leone, Piero, Petrosillo, Giuseppe, Liuzzi, Grazia Maria, Ryder, Bryony, Inbar-Feigenberg, Michal, Colella, Matilde, Lezza, Angela M. S., Olsen, Rikke K. J., Barile, Maria
Published in Free radical research (03.08.2022)
Published in Free radical research (03.08.2022)
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Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
Fogh, Sarah, Dipace, Graziana, Bie, Anne, Veiga‐da‐Cunha, Maria, Hansen, Jakob, Kjeldsen, Margrethe, Mosegaard, Signe, Ribes, Antonia, Gregersen, Niels, Aagaard, Lars, Van Schaftingen, Emile, Olsen, Rikke K. J.
Published in Journal of inherited metabolic disease (01.09.2021)
Published in Journal of inherited metabolic disease (01.09.2021)
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