Myopathy as a cause of Long COVID fatigue : Evidence from quantitative and single fiber EMG and muscle histopathology. / MULTICOV Consortium.
In: Clinical Neurophysiology, Vol. 148, 04.2023, p. 65-75.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Simultaneous measurement of kynurenine metabolites and explorative metabolomics using liquid chromatography-mass spectrometry: A novel accurate method applied to serum and plasma samples from a large healthy cohort. / Eggertsen, Peter Preben; Hansen, Jakob; Andersen, Malene Lundfold et al.
In: Journal of Pharmaceutical and Biomedical Analysis, 16.02.2023.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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. et al.
In: Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids, Vol. 1868, No. 2, 159248, 02.2023.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Autoimmunity in patients reporting long-term complications after exposure to human papilloma virus vaccination. / Mehlsen, Jesper; Brinth, Louise; Pors, Kirsten et al.
In: Journal of Autoimmunity, Vol. 133, 102921, 12.2022.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD : A single-center retrospective study. / Wen, Bing; Tang, Shuyao; Lv, Xiaoqing et al.
In: Human Molecular Genetics, Vol. 31, No. 7, 04.2022, p. 1115-1129.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Use of molecular genetic analyses in danish routine newborn screening. / Lund, Allan Meldgaard; Wibrand, Flemming; Skogstrand, Kristin et al.
In: International Journal of Neonatal Screening, Vol. 7, No. 3, 50, 09.2021.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Variants in the Ethylmalonyl-CoA Decarboxylase (ECHDC1) Gene; a Novel Player in Ethylmalonic Aciduria? / Fogh, Sarah; Dipace, Graziana; Bie, Anne et al.
In: Journal of Inherited Metabolic Disease, Vol. 44, No. 5, 09.2021, p. 1215-1225.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
In: B B A - Molecular Basis of Disease, Vol. 1867, No. 6, 166100, 06.2021.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
In: Biomolecules, Vol. 11, No. 7, 961, 06.2021.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease. / Henriques, Bárbara J.; Katrine Jentoft Olsen, Rikke; Gomes, Cláudio M. et al.
In: Gene, Vol. 776, 145407, 15.04.2021.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
In: Pediatric Research, Vol. 88, No. 4, 10.2020, p. 556-564.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Riboflavin deficiency—implications for general human health and inborn errors of metabolism. / Mosegaard, Signe; Dipace, Graziana; Bross, Peter et al.
In: International Journal of Molecular Sciences , Vol. 21, No. 11, 3847, 06.2020.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review
Mitochondrial Structure and Function in the Metabolic Myopathy Accompanying Patients with Critical Limb Ischemia. / Groennebaek, Thomas; Billeskov, Tine Borum; Schytz, Camilla Tvede et al.
In: Cells, Vol. 9, No. 3, 570, 03.2020.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Danish expanded newborn screening is a successful preventive public health programme. / Lund, Allan; Wibrand, Flemming; Skogstrand, Kristin et al.
In: Danish Medical Journal, Vol. 67, No. 1, A06190341, 01.2020.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Myalgisk encefalomyelitis eller kronisk træthedssyndrom. / Brinth, Louise; Nielsen, Henrik; Varming, Kim et al.
In: Ugeskrift for Laeger, Vol. 181, No. 24, V08180570, 10.06.2019.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy. / Ryder, B; Tolomeo, M; Colella, M et al.
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/proceeding › Book chapter › Research › peer-review
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. / Muru, Kai; Reinson, Karit; Künnapas, Kadi et al.
In: Molecular Genetics and Genomic Medicine, Vol. 7, No. 9, e915, 2019.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Mindfulness, Health, and Longevity. / Dahlgaard, Jesper; Jørgensen, Malene Munk; van der Velden, Anne Maj et al.
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/proceeding › Book chapter › Research › peer-review
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts. / García-Villoria, Judit; De Azua, Begoña; Tort, Frederic et al.
In: Clinical Genetics, Vol. 94, No. 6, 12.2018, p. 592-593.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Comment/debate/letter to the editor › Research › peer-review
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy. / Yıldız, Yılmaz; Olsen, Rikke Katrine Jentoft; Sivri, Hatice Serap et al.
In: Neuromuscular Disorders, Vol. 28, No. 9, 09.2018, p. 787-790.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
In: Dansk Kemi, Vol. 1, No. Februar 2018 / 99, 2018, p. 20-24.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Contribution to newspaper - Feature article
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 et al.
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 newspaper › Journal article › Research › peer-review
Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy. / Auranen, M.; Paetau, A.; Piirila, P. et al.
In: Neuromuscular Disorders, Vol. 27, No. 6, 06.2017, p. 581-584.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 newspaper › Journal article › Research › peer-review
Mitochondrial Spare Respiratory Capacity Is Negatively Correlated With Nuclear Reprogramming Efficiency. / Zhou, Yan; Al-Saaidi, Rasha Abdelkadhem; Guerra, Paula Fernandez et al.
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 newspaper › Journal article › Research › peer-review
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 newspaper › Journal article › Research › peer-review
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 et al.
2016. Poster session presented at CRISPR genome editing: From high-throughput screening to disease models, Copenhagen, Denmark.Research output: Contribution to conference › Poster › Research
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 et al.
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 newspaper › Journal article › Research › peer-review
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 newspaper › Journal article › Research › peer-review
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 newspaper › Journal article › Research › peer-review
CoQ10 as a modulator of mitochondrial dysfunction and maladaptive stress responses in chronic fatigue syndrome. / Søes, Signe; Brinth, Louise ; Gregersen, Niels et al.
Coenzyme Q10: from fact to fiction: Cell Biology Research Progress. Nova Science Publishers, 2015.Research output: Contribution to book/anthology/report/proceeding › Book chapter › Research › peer-review
Genetic Variants in NPHS1, NPHS2 and INF2 in Patients with Primary Focal Segmental Glomerulosclerosis in Denmark. / Joshi, Shivani; Andersen, René Frydensbjerg; Jespersen, Bente et al.
2015. Poster session presented at 10th International Podocyte Conference, Freiburg, Germany.Research output: Contribution to conference › Poster › Research › peer-review
High-resolution melting analysis to study gene variations in Nephrotic Syndrome. / Joshi, Shivani; Andersen, René Frydensbjerg; Jespersen, Bente et al.
2015. Poster session presented at 12th International Symposium on Mutation in the Genome, Lake Louise, Canada.Research output: Contribution to conference › Poster › Research › peer-review
Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts. / Cornelius, Nanna; Corydon, Thomas J; Gregersen, Niels et al.
In: Human Molecular Genetics, 15.04.2014.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency. / Edhager, Anders V; Stenbroen, Vibeke; Nielsen, Nadia Sukusu et al.
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 newspaper › Journal article › Research › peer-review
Oxidative stress and mitochondrial defect in neuromuscular disorders: source or symptoms? / Cornelius, Nanna; Gregersen, Niels; Tümer, Zeynep et al.
Oxidative Stress: Causes, Role in Diseases and Biological Effects. Nova Publishers, 2014.Research output: Contribution to book/anthology/report/proceeding › Book chapter › Research › peer-review
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 newspaper › Journal article › Research › peer-review
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 et al.
In: Human Mutation, 07.10.2013.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
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 newspaper › Journal article › Research › peer-review
Locus heterogeneity in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. / Mosegaard, Signe; Olpin, SE; Sharrard, MJ et al.
2013. Poster session presented at 12th International congress of inborn errors of metabolism, Barcelona, Spain.Research output: Contribution to conference › Poster › Communication
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 et al.
2013. Poster session presented at 12th International congress of inborn errors of metabolism, Barcelona, Spain.Research output: Contribution to conference › Poster › Communication
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 et al.
2013. Poster session presented at 12th International congress of inborn errors of metabolism, Barcelona, Spain.Research output: Contribution to conference › Poster › Communication
The acyl-CoA dehydrogenases. / Kim, Jung-Ja P.; Gregersen, Niels; Olsen, Rikke et al.
Flavoproteins. de Gruyter, 2013. p. 213-248.Research output: Contribution to book/anthology/report/proceeding › Book chapter › Communication
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 et al.
In: Molecular Genetics and Metabolism, Vol. 107, No. 3, 2012, p. 281-93.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
In: Human Molecular Genetics, Vol. 21, No. 15, 2012, p. 3435-48.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Mutational spectrum and genotype-phenotype relations in 139 patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiencies. / Olsen, Rikke; Olpin, SE; Cornelius, Nanna et al.
2012. Poster session presented at Society for the Study of Inborn Errors of Metabolism, Birmingham 2012, United Kingdom.Research output: Contribution to conference › Poster › Communication
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 et al.
In: JIMD Reports , Vol. 3, 2012, p. 11-5.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. / Joost, K; Ounap, K; Zordania, R et al.
In: JIMD Reports , Vol. 2, 2012, p. 79-85.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Search for variations in the ethylmalonyl-CoA decarboxylase gene in patients with ethylmalonic aciduria. / Olsen, Rikke; Bie, Anne Sigaard; Van Schaftingen, E. et al.
2012. Poster session presented at Society for the Study of Inborn Errors of Metabolism, Birmingham 2012, United Kingdom.Research output: Contribution to conference › Poster › Communication
The Acyl-CoA Dehydrogenases : Handbook of Flavoproteins. / Kim, JP; Gregersen, Niels; Olsen, Rikke Katrine Jentoft et al.
Handbook of Flavoproteins. de Gruyter, 2012. p. 213-240.Research output: Contribution to book/anthology/report/proceeding › Book chapter › Research › peer-review
Protein interaction and genetic disease. / Gregersen, Niels; Bross, Peter; Olsen, Rikke et al.
In: In Encyclopedia of Life Sciences, 15.02.2011.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
In: Human Mutation, Vol. 32/1, 2011.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
In: JIMD Reports , 2011.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
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 newspaper › Journal article › Research › peer-review
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 et al.
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 newspaper › Journal article › Research › peer-review
Emerging roles for riboflavin in functional rescue of mitochondrial β-oxidation flavoenzymes. / Henriques, Bárbara J; Olsen, Rikke K; Bross, Peter et al.
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 newspaper › Journal article › Research › peer-review
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 et al.
In: Journal of Inherited Metabolic Disease, 2010.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
In: Journal of Inherited Metabolic Disease, 2010.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 newspaper › Journal article › Research › peer-review
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 et al.
In: Journal of Inherited Metabolic Disease, Vol. 33, 2010, p. 247-60.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
In: Journal of Inherited Metabolic Disease, Vol. 34/1, No. 185-95, 2010.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
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 newspaper › Journal article › Research › peer-review
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 et al.
In: Journal of Biological Chemistry, Vol. 284, No. 7, 2009, p. 4222-9.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Transcriptional profiles in urine during acute rejection, bacteriuria, CMV infection and stable graft function after renal transplantation. / Øzbay, A; Tørring, C; Olsen, Rikke et al.
In: Scandinavian Journal of Immunology, Vol. 69, No. 4, 2009, p. 357-65.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
In: Journal of Inherited Metabolic Disease, No. 1, 2008, p. 36.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Conference abstract in journal › Research
Mitochondrial fatty acid oxidation defects-remaining challenges. / Gregersen, Niels; Andresen, Brage; Pedersen, Christina Bak et al.
In: Journal of Inherited Metabolic Disease, 2008.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. / Olsen, Rikke K J; Olpin, Simon E; Andresen, Brage S et al.
In: Brain, Vol. 130, No. Pt 8, 2007, p. 2045-54.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. / Chiong, M A; Sim, K G; Carpenter, K et al.
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 newspaper › Journal article › Research › peer-review
Electron transfer flavoprotein deficiency: Functional and molecular aspects. / Schiff, M; Froissart, R; Olsen, Rikke Katrine Jentoft et al.
In: Molecular Genetics and Metabolism, Vol. 88, No. 2, 2006, p. 153-8.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Multiple Acyl-CoA Dehydrogenation Deficiency : Henry Stewart Talk Series in Protein Epidemiology. / Olsen, Rikke Katrine Jentoft.
2006, Lyd- og billedmedier.Research output: Other contribution › Research
DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency. / Olsen, Rikke K J; Andresen, Brage S; Christensen, Ernst et al.
In: Prenatal Diagnosis, Vol. 25, No. 1, 01.2005, p. 60-4.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. / Olpin, S.E.; Clark, S.; Bischoff, Claus et al.
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 newspaper › Journal article › Research › peer-review
DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency. / Olsen, Rikke Katrine Jentoft; Andresen, Brage Storstein; Christensen, E. et al.
In: Prenatal Diagnosis, Vol. 25, No. 1, 2005, p. 60-64.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
The Molecular Basis of Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenation Deficiency. / Olsen, Rikke Katrine Jentoft; Andresen, Brage Storstein; Gregersen, Niels et al.
Ikke angivet. 28, suppl 1. ed. Journal of Inherited Metabolic Disease, 2005. p. 116.Research output: Contribution to book/anthology/report/proceeding › Conference abstract in proceedings › Research
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 et al.
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 newspaper › Journal article › Research › peer-review
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 et al.
In: Human Mutation, Vol. 22, No. 1, 2003, p. 12-23.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Late-onset form of beta-electron transfer flavoprotein deficiency. / Curcoy, A; Olsen, Rikke Katrine Jentoft; Ribes, A et al.
In: Molecular Genetics and Metabolism, Vol. 78, No. 4, 2003, p. 247-9.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research
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 et al.
In: Human Mutation, Vol. 18, No. 3, 2001, p. 169-89.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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 et al.
In: Molecular Genetics and Metabolism, Vol. 67, No. 2, 1999, p. 138-47.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review