Rikke Olsen

  1. 2020
  2. Published

    Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency : does lipoic acid have a protective role? / Nochi, Zahra; Birkler, Rune Isak Dupont; Fernandez-Guerra, Paula; Hansen, Jakob; Wibrand, Flemming; Corydon, Thomas Juhl; Gregersen, Niels; Olsen, Rikke Katrine Jentoft.

    In: Pediatric Research, Vol. 88, No. 4, 10.2020, p. 556-564.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  3. Published

    Riboflavin deficiency—implications for general human health and inborn errors of metabolism. / Mosegaard, Signe; Dipace, Graziana; Bross, Peter; Carlsen, Jasper; Gregersen, Niels; Olsen, Rikke Katrine Jentoft.

    In: International Journal of Molecular Sciences, Vol. 21, No. 11, 3847, 06.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperReviewResearchpeer-review

  4. Published

    Mitochondrial Structure and Function in the Metabolic Myopathy Accompanying Patients with Critical Limb Ischemia. / Groennebaek, Thomas; Billeskov, Tine Borum; Schytz, Camilla Tvede; Jespersen, Nichlas Riise; Bøtker, Hans Erik; Olsen, Rikke Kathrine Jentoft; Eldrup, Nikolaj; Nielsen, Joachim; Farup, Jean; De Paoli, Frank Vincenzo; Vissing, Kristian.

    In: Cells, Vol. 9, No. 3, 570, 03.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  5. Published

    Danish expanded newborn screening is a successful preventive public health programme. / Lund, Allan; Wibrand, Flemming; Skogstrand, Kristin; Cohen, Arieh; Christensen, Mette; Jäpelt, Rie Bak; Dunø, Morten; Skovby, Flemming; Nørgaard-Pedersen, Bent; Gregersen, Niels; Andresen, Brage Storstein; Olsen, Rikke Katrine Jentoft; Hougaard, David.

    In: Danish Medical Journal, Vol. 67, No. 1, A06190341, 01.2020.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  6. 2019
  7. Published

    Myalgisk encefalomyelitis eller kronisk træthedssyndrom. / Brinth, Louise; Nielsen, Henrik; Varming, Kim; Boonen, Susanne E; Ebsen, A C Gonzalez; Fernández-Guerra, Paula; Schou, Anne Sophie; Mehlsen, Jesper; Gregersen, Niels; Brandslund, Ivan; Olsen, Rikke Katrine Jentoft.

    In: Ugeskrift for Laeger, Vol. 181, No. 24, V08180570, 10.06.2019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  8. Published

    A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy. / Ryder, B; Tolomeo, M; Colella, M; Barile, M; Olsen, R K; Inbar-Feigenberg, M; Nochi, Zahra.

    JIMD Reports. ed. / Eva Morava; Matthias Baumgartner; Marc Patterson; Shamima Rahman; Johannes Zschocke; Verena Peters. Springer, 2019. p. 37-44 (JIMD Reports , Vol. 45).

    Research output: Contribution to book/anthology/report/proceedingBook chapterResearchpeer-review

  9. Published

    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.

    In: Molecular Genetics and Genomic Medicine, Vol. 7, No. 9, e915, 2019.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  10. Published

    Mindfulness, Health, and Longevity. / Dahlgaard, Jesper; Jørgensen, Malene Munk; van der Velden, Anne Maj; Sumbundu , A; Gregersen, Niels; Olsen, Rikke Katrine Jentoft; Mehlsen, Mimi Yung.

    The Science of Hormesis in Health and Longevity. ed. / Suresh I.S. Rattan; Marios Kyriazis. Academic Press, 2019. p. 243-255.

    Research output: Contribution to book/anthology/report/proceedingBook chapterResearchpeer-review

  11. 2018
  12. Published

    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.

    In: Clinical Genetics, Vol. 94, No. 6, 12.2018, p. 592-593.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperComment/debateResearchpeer-review

  13. Published

    Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy. / Yıldız, Yılmaz; Olsen, Rikke Katrine Jentoft; Sivri, Hatice Serap; Akçören, Zuhal; Nygaard, Helle Highland; Tokatlı, Ayşegül.

    In: Neuromuscular Disorders, Vol. 28, No. 9, 09.2018, p. 787-790.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  14. Published

    Kronisk træthedssyndrom, en usynlig sygdom? Seahorse XF teknologi kan måle cellers evne til at producere energi under stress, og afslører dysfunktionelle energisystemer i Kronisk træthedssyndrom. / Olsen, Rikke Katrine Jentoft; Martlev , L; Fernandez-Guerra, Paula; Brinth , L.

    In: Dansk Kemi, Vol. 1, No. Februar 2018 / 99, 2018, p. 20-24.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperContribution to newspaper - Feature articleCommunication

  15. 2017
  16. Published

    An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. / Mosegaard, Signe; Bruun, Gitte Hoffmann; Flyvbjerg, Karen Freund; Bliksrud, Yngve Thomas; Gregersen, Niels; Dembic, Maja; Annexstad, Ellen; Tangeraas, Trine; Olsen, Rikke Katrine Jentoft; Andresen, Brage S.

    In: Molecular Genetics and Metabolism, Vol. 122, No. 4, 12.2017, p. 182-188.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  17. Published

    Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy. / Auranen, M.; Paetau, A.; Piirila, P.; Pohju, A.; Salmi, T.; Lamminen, A.; Lofberg, M.; Mosegaard, S.; Olsen, R. K.; Tyni, T.

    In: Neuromuscular Disorders, Vol. 27, No. 6, 06.2017, p. 581-584.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  18. Published

    Short-chain acyl-CoA dehydrogenase deficiency : from gene to cell pathology and possible disease mechanisms. / Nochi, Zahra; Olsen, Rikke Katrine Jentoft; Gregersen, Niels.

    In: Journal of Inherited Metabolic Disease, 17.05.2017.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  19. Published

    Mitochondrial Spare Respiratory Capacity Is Negatively Correlated With Nuclear Reprogramming Efficiency. / Zhou, Yan; Al-Saaidi, Rasha Abdelkadhem; Guerra, Paula Fernandez; Freude, Kristine Karla; Olsen, Rikke Katrine Jentoft; Jensen, Uffe Birk; Gregersen, Niels; Hyttel, Poul; Bolund, Lars; Aagaard, Lars; Bross, Peter; Luo, Yonglun.

    In: Stem Cells and Development, Vol. 26, No. 3, 02.2017, p. 166-176.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  20. Published

    Linking telomere loss and mitochondrial dysfunction in chronic disease. / Gonzalez-Ebsen, Ana Carlota; Gregersen, Niels; Olsen, Rikke Kj.

    In: Frontiers in Bioscience, Vol. 22, 01.01.2017, p. 117-127.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  21. 2016
  22. Published

    Investigation of the disease mechanisms of Short-Chain Acyl-CoA Dehydrogenase deficiency by biallelic knockout using CRISPR/Cas9. / Fogh, Sarah; Olsen, Rikke Katrine Jentoft; Gregersen, Niels; Aagaard, Lars.

    2016. Poster session presented at CRISPR genome editing: From high-throughput screening to disease models, Copenhagen, Denmark.

    Research output: Contribution to conferencePosterResearch

  23. Published

    Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. / Olsen, Rikke K J; Koňaříková, Eliška; Giancaspero, Teresa A; Mosegaard, Signe; Boczonadi, Veronika; Mataković, Lavinija; Veauville-Merllié, Alice; Terrile, Caterina; Schwarzmayr, Thomas; Haack, Tobias B; Auranen, Mari; Leone, Piero; Galluccio, Michele; Imbard, Apolline; Gutierrez-Rios, Purificacion; Palmfeldt, Johan; Graf, Elisabeth; Vianey-Saban, Christine; Oppenheim, Marcus; Schiff, Manuel; Pichard, Samia; Rigal, Odile; Pyle, Angela; Chinnery, Patrick F; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Feichtinger, René G; Talim, Beril; Topaloglu, Haluk; Coskun, Turgay; Gucer, Safak; Botta, Annalisa; Pegoraro, Elena; Malena, Adriana; Vergani, Lodovica; Mazzà, Daniela; Zollino, Marcella; Ghezzi, Daniele; Acquaviva, Cecile; Tyni, Tiina; Boneh, Avihu; Meitinger, Thomas; Strom, Tim M; Gregersen, Niels; Mayr, Johannes A; Horvath, Rita; Barile, Maria; Prokisch, Holger.

    In: American Journal of Human Genetics, Vol. 98, No. 6, 02.06.2016, p. 1130-45.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  24. 2015
  25. Published

    A short introduction to acyl-CoA dehydrogenases; deficiencies and novel treatment strategies. / Lund, Martin; Olsen, Rikke Katrine Jentoft; Gregersen, Niels.

    In: Expert Opinion on Orphan Drugs, Vol. 3, No. 12, 24.09.2015, p. 1375-1386.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  26. Published

    Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism. / Olsen, Rikke K J; Cornelius, Nanna; Gregersen, Niels.

    In: Journal of Inherited Metabolic Disease, 30.05.2015.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  27. Published

    CoQ10 as a modulator of mitochondrial dysfunction and maladaptive stress responses in chronic fatigue syndrome. / Søes, Signe; Brinth, Louise ; Gregersen, Niels; Olsen, Rikke Katrine Jentoft.

    Coenzyme Q10: from fact to fiction: Cell Biology Research Progress. Nova Science Publishers, 2015.

    Research output: Contribution to book/anthology/report/proceedingBook chapterResearchpeer-review

  28. Published

    Genetic Variants in NPHS1, NPHS2 and INF2 in Patients with Primary Focal Segmental Glomerulosclerosis in Denmark. / Joshi, Shivani; Andersen, René Frydensbjerg; Jespersen, Bente; Rasmussen, Maria; Madsen, Line Bille; Hansen, Anita; Nagaraj, Subagini; Kjeldsen, Margrethe; Olsen, Rikke Katrine Jentoft; Gregersen, Niels; Rittig, Søren.

    2015. Poster session presented at 10th International Podocyte Conference, Freiburg, Germany.

    Research output: Contribution to conferencePosterResearchpeer-review

  29. Published

    High-resolution melting analysis to study gene variations in Nephrotic Syndrome. / Joshi, Shivani; Andersen, René Frydensbjerg; Jespersen, Bente; Kjeldsen, Margrethe; Olsen, Rikke Katrine Jentoft; Rittig, Søren.

    2015. Poster session presented at 12th International Symposium on Mutation in the Genome, Lake Louise, Canada.

    Research output: Contribution to conferencePosterResearchpeer-review

  30. 2014
  31. Published

    Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts. / Cornelius, Nanna; Corydon, Thomas J; Gregersen, Niels; Olsen, Rikke K J.

    In: Human Molecular Genetics, 15.04.2014.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  32. Published

    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.

    In: Molecular Genetics and Metabolism, Vol. 111, No. 3, 24.01.2014, p. 360-368.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  33. Published

    Oxidative stress and mitochondrial defect in neuromuscular disorders: source or symptoms? / Cornelius, Nanna; Gregersen, Niels; Tümer, Zeynep; Olsen, Rikke Katrine Jentoft.

    Oxidative Stress: Causes, Role in Diseases and Biological Effects. Nova Publishers, 2014.

    Research output: Contribution to book/anthology/report/proceedingBook chapterResearchpeer-review

  34. 2013
  35. Published

    Genetic and cellular modifiers of oxidative stress : What can we learn from fatty acid oxidation defects? / Olsen, Rikke Katrine Jentoft; Cornelius, Nanna; Gregersen, Niels.

    In: Molecular Genetics and Metabolism, Vol. 2010, No. supplement, 12.10.2013, p. s31-s39.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  36. Published

    The ETFDH c.158A>G Variation Disrupts the Balanced Binding of ESE and ESS Proteins Causing Missplicing and Multiple acyl-CoA Dehydrogenation Deficiency. / Olsen, Rikke K J; Brøner, Sabrina; Sabaratnam, Rugivan; Doktor, Thomas K; Andersen, Henriette S; Bruun, Gitte H; Gahrn, Birthe; Stenbroen, Vibeke; Olpin, Simon E; Dobbie, Angus; Gregersen, Niels; Andresen, Brage S.

    In: Human Mutation, 07.10.2013.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  37. Published

    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.

    In: Human Molecular Genetics, Vol. 22, No. 19, 01.10.2013, p. 3819-27.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  38. Published

    Locus heterogeneity in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. / Mosegaard, Signe; Olpin, SE; Sharrard, MJ; Manning, NJ; Boneh, A.; Ryan, K.; Andreasen, Charlotte; Kjeldsen, Margrethe; Gregersen, Niels; Olsen, Rikke.

    2013. Poster session presented at 12th International congress of inborn errors of metabolism, Barcelona, Spain.

    Research output: Contribution to conferencePosterCommunication

  39. Published

    Evidence that fibroblasts from patients affected by medium-chain acyl-CoA dehydrogenase deficiency (MCADD) are under chronic ocidative stress. / Tonin, Anelise Miotti; Fernandez Guerra, Paula; Cornelius, Nanna; Olsen, Rikke; Wajner, M.; Gregersen, Niels.

    2013. Poster session presented at 12th International congress of inborn errors of metabolism, Barcelona, Spain.

    Research output: Contribution to conferencePosterCommunication

  40. Published

    Is there a molecular rationale for treating patients with riboflavinresponsive multiple acyl-CoA dehydrogenation deficiency (RR;: MADD) with CoQ10 in addition to riboflavin. / Olsen, Rikke; Cornelius, Nanna; Corydon, Thomas Juhl; Gregersen, Niels.

    2013. Poster session presented at 12th International congress of inborn errors of metabolism, Barcelona, Spain.

    Research output: Contribution to conferencePosterCommunication

  41. Published

    The acyl-CoA dehydrogenases. / Kim, Jung-Ja P.; Gregersen, Niels; Olsen, Rikke; Ghisla, S.

    Flavoproteins. de Gruyter, 2013. p. 213-248.

    Research output: Contribution to book/anthology/report/proceedingBook chapterCommunication

  42. 2012
  43. Published

    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.

    In: Molecular Genetics and Metabolism, Vol. 107, No. 3, 2012, p. 281-93.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  44. Published

    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.

    In: Human Molecular Genetics, Vol. 21, No. 15, 2012, p. 3435-48.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  45. Published

    Mutational spectrum and genotype-phenotype relations in 139 patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiencies. / Olsen, Rikke; Olpin, SE; Cornelius, Nanna; Andresen, BS; Gregersen, Niels.

    2012. Poster session presented at Society for the Study of Inborn Errors of Metabolism, Birmingham 2012, United Kingdom.

    Research output: Contribution to conferencePosterCommunication

  46. Published

    Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark. / Borch, Luise; Lund, Allan Meldgaard; Wibrand, Flemming; Christensen, Ernst; Søndergaard, Charlotte; Gahrn, Birthe; Hougaard, David Michael; Andresen, Brage Storstein; Gregersen, Niels; Olsen, Rikke Katrine Jentoft.

    In: JIMD Reports , Vol. 3, 2012, p. 11-5.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  47. Published

    Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. / Joost, K; Ounap, K; Zordania, R; Uudelepp, M-L; Olsen, R K; Kall, K; Kilk, K; Soomets, U; Kahre, T.

    In: JIMD Reports , Vol. 2, 2012, p. 79-85.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  48. Published

    Search for variations in the ethylmalonyl-CoA decarboxylase gene in patients with ethylmalonic aciduria. / Olsen, Rikke; Bie, Anne Sigaard; Van Schaftingen, E.; Gregersen, Niels.

    2012. Poster session presented at Society for the Study of Inborn Errors of Metabolism, Birmingham 2012, United Kingdom.

    Research output: Contribution to conferencePosterCommunication

  49. Published

    The Acyl-CoA Dehydrogenases : Handbook of Flavoproteins. / Kim, JP; Gregersen, Niels; Olsen, Rikke Katrine Jentoft; Ghisla, S.

    Handbook of Flavoproteins. de Gruyter, 2012. p. 213-240.

    Research output: Contribution to book/anthology/report/proceedingBook chapterResearchpeer-review

  50. 2011
  51. Published

    Protein interaction and genetic disease. / Gregersen, Niels; Bross, Peter; Olsen, Rikke; Palmfeldt, Johan; Corydon, Thomas Juhl.

    In: In Encyclopedia of Life Sciences, 15.02.2011.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  52. Published

    Maternal riboflavin deficiency,resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by amicrodeletion in the riboflavin transporter gene GPR172B. / Ho, Gladys; Yonezawa, Atsushi; Masuda, Satohiro; Inui, Ken-ichi; Sim, Keow G; Carpenter, Kevin; Olsen, Rikke Katrine; Mitchell, John J; Rhead, William J; Peters, Gregory; Christodoulou, John.

    In: Human Mutation, Vol. 32/1, 2011.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  53. Published

    Normal level of plasma free carnitine and acylcarnitine in follow-up samples from a presymptomatic case of carnitine palmitoyl transferase 1 deficiency detected through newborn screening in Denmark. / Louise, Borch; Meldgaard Lund, Allan; Wibrandt, Flemming ; Christensen, Ernst; Søndergaard, Charlotte; Gahrn, Birthe; Michael Hougaard, David; Andresen, Brage Storstein; Gregersen, Niels; Olsen, Rikke.

    In: JIMD Reports , 2011.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  54. Published

    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.

    In: Journal of Inherited Metabolic Disease, Vol. 34, No. 1, 2011, p. 185-95.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  55. 2010
  56. Published

    High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. / Olsen, Rikke Katrine Jentoft; Dobrowolski, Steven F; Kjeldsen, Margrethe; Hougaard, David; Simonsen, Henrik; Gregersen, Niels; Andresen, Brage Storstein.

    In: Journal of Inherited Metabolic Disease, Vol. 33, No. 3, 06.2010, p. 247-60.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  57. Published

    Emerging roles for riboflavin in functional rescue of mitochondrial β-oxidation flavoenzymes. / Henriques, Bárbara J; Olsen, Rikke K; Bross, Peter; Gomes, Cláudio M.

    In: Current Medicinal Chemistry, Vol. 17, No. 32, 01.01.2010, p. 3842-54.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  58. Published

    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.

    In: Journal of Inherited Metabolic Disease, 2010.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  59. Published

    A comprehensive HADHA c.1528G>C frequency studyreveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. / Piekutowska-Abramczuk , D; Olsen, Rikke; Wierzba, J; Popowska, E; Jurkiewicz , D; Ciara, E; Ołtarzewski, M; Gradowska , W; Sykut-Cegielska , J; Krajewska-Walasek , M; Andresen, BS; Gregersen, Niels; Pronicka, E.

    In: Journal of Inherited Metabolic Disease, 2010.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  60. Published

    Disease mechanisms and protein structures in fatty acid oxidation defects. / Gregersen, Niels; Olsen, Rikke Katrine Jentoft.

    In: Journal of Inherited Metabolic Disease, 2010.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  61. Published

    High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. / Olsen, Rikke; Dobrowolski, SF; Kjeldsen, Margrethe; Hougaard, D; Simonsen, H; Gregersen, Niels; Andresen, BS.

    In: Journal of Inherited Metabolic Disease, Vol. 33, 2010, p. 247-60.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  62. Published

    Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. / Sykut-Cegielska, J; Gradowska, W; Piekutowska-Abramczuk , D; Andresen, BS; Olsen, Rikke; Ołtarzewski, M; Pronicki, M; Pajdowska, M; Bogdańska, A; Jabłońska, E; Radomyska, B; Kuśmierska, K; Krajewska-Walasek , M; Gregersen, Niels; Pronicka, E.

    In: Journal of Inherited Metabolic Disease, Vol. 34/1, No. 185-95, 2010.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  63. 2009
  64. Published

    Role of Flavinylation in a Mild Variant of Multiple Acyl-CoA DehydrogenationDeficiency: A MOLECULAR RATIONALE FOR THE EFFECTS OF RIBOFLAVIN SUPPLEMENTATION. / Henriques, Barbara J; Rodrigues, Joao V; Olsen, Rikke Katrine Jentoft; Bross, Peter Gerd; Gomes, Claudio M.

    In: International Journal of Biological Chemistry, Vol. 284, No. 7, 2009, p. 4222-4229.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  65. Published

    Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency : a molecular rationale for the effects of riboflavin supplementation. / Henriques, Bárbara J; Rodrigues, João V; Olsen, Rikke K; Bross, Peter; Gomes, Cláudio M.

    In: Journal of Biological Chemistry, Vol. 284, No. 7, 2009, p. 4222-9.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  66. Published

    Transcriptional profiles in urine during acute rejection, bacteriuria, CMV infection and stable graft function after renal transplantation. / Øzbay, A; Tørring, C; Olsen, Rikke; Carstens, J.

    In: Scandinavian Journal of Immunology, Vol. 69, No. 4, 2009, p. 357-65.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  67. 2008
  68. Published

    Investigation of the effect of riboflavin on the steady-state amount of variant electron transfer flavoproteins (ETF:QO) identified in patients with riboflavin-responsive multiple acyl-CoA dehydrogeanse deficiency (RR-MADD). / Cornelius, Nanna; Olsen, Rikke; Corydon, Thomas Juhl; Gregersen, Niels.

    In: Journal of Inherited Metabolic Disease, No. 1, 2008, p. 36.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperConference abstract in journalResearch

  69. Published

    Mitochondrial fatty acid oxidation defects-remaining challenges. / Gregersen, Niels; Andresen, Brage; Pedersen, Christina Bak; Olsen, Rikke; Corydon, Thomas; Bross, Peter.

    In: Journal of Inherited Metabolic Disease, 2008.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  70. 2007
  71. Published

    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.

    In: Brain, Vol. 130, No. Pt 8, 2007, p. 2045-54.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  72. Published

    Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. / Chiong, M A; Sim, K G; Carpenter, K; Rhead, W; Ho, G; Olsen, Rikke Katrine Jentoft; Christodoulou, J.

    In: Molecular Genetics and Metabolism, Vol. 92, No. 1-2, 2007, p. 109-14.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  73. 2006
  74. Published

    Electron transfer flavoprotein deficiency: Functional and molecular aspects. / Schiff, M; Froissart, R; Olsen, Rikke Katrine Jentoft; Acquaviva, C; Vianey-Saban, C.

    In: Molecular Genetics and Metabolism, Vol. 88, No. 2, 2006, p. 153-8.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  75. Published
  76. 2005
  77. Published

    DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency. / Olsen, Rikke K J; Andresen, Brage S; Christensen, Ernst; Mandel, Hanna; Skovby, Flemming; Nielsen, Jens Peter; Knudsen, Inga; Vianey-Saban, Christine; Simonsen, Henrik; Gregersen, Niels.

    In: Prenatal Diagnosis, Vol. 25, No. 1, 01.2005, p. 60-4.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  78. Published

    Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. / Olpin, S.E.; Clark, S.; Bischoff, Claus; Olsen, Rikke Katrine Jentoft; Gregersen, N.; Chakrapani, A.; Downing, M.; Manning, N.J.; Andresen, Brage Storstein; Sharrard, M.; Bonham, J.R.; Muntoni, F.; Turnbull, D.N.; Pourfarzam, M.

    In: Journal of Inherited Metabolic Disease, Vol. 28, No. 4, 2005, p. 533-544.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  79. Published

    DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency. / Olsen, Rikke Katrine Jentoft; Andresen, Brage Storstein; Christensen, E.; Mandel, H.; Skovby, F.; Nielsen, J.P.; Knudsen, I.; Vianey-Saban, C.; Simonsen, H.; Gregersen, N.

    In: Prenatal Diagnosis, Vol. 25, No. 1, 2005, p. 60-64.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  80. Published

    The Molecular Basis of Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenation Deficiency. / Olsen, Rikke Katrine Jentoft; Andresen, Brage Storstein; Gregersen, Niels; Miedzybrodska, Z; Pourfarzam, M; Merinero, B; Olpin, S; Morris, A.A.M.

    Ikke angivet. 28, suppl 1. ed. Journal of Inherited Metabolic Disease, 2005. p. 116.

    Research output: Contribution to book/anthology/report/proceedingConference abstract in proceedingsResearch

  81. 2004
  82. Published

    Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. / Olsen, Rikke Katrine Jentoft; Pourfarzam, M; Morris, A A M; Dias, R C; Knudsen, I; Andresen, B S; Gregersen, N; Olpin, S E.

    In: Journal of Inherited Metabolic Disease, Vol. 27, No. 5, 2004, p. 671-8.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  83. 2003
  84. Published

    Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. / Olsen, Rikke K J; Andresen, Brage S; Christensen, Ernst; Bross, Peter; Skovby, Flemming; Gregersen, Niels.

    In: Human Mutation, Vol. 22, No. 1, 2003, p. 12-23.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  85. Published

    Late-onset form of beta-electron transfer flavoprotein deficiency. / Curcoy, A; Olsen, Rikke Katrine Jentoft; Ribes, A; Trenchs, V; Vilaseca, M A; Campistol, J; Osorio, J H; Andresen, B S; Gregersen, N.

    In: Molecular Genetics and Metabolism, Vol. 78, No. 4, 2003, p. 247-9.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearch

  86. 2001
  87. Published

    Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. / Gregersen, N; Andresen, B S; Corydon, M J; Corydon, T J; Olsen, Rikke Katrine Jentoft; Bolund, L; Bross, P.

    In: Human Mutation, Vol. 18, No. 3, 2001, p. 169-89.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  88. 1999
  89. Published

    A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation. / Bross, P; Pedersen, P; Nyholm, M; Johansen, B N; Olsen, Rikke Katrine Jentoft; Corydon, M J; Andresen, B S; Eiberg, H; Kolvraa, S; Gregersen, N.

    In: Molecular Genetics and Metabolism, Vol. 67, No. 2, 1999, p. 138-47.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review