Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy
Auranen, M, MD PhD, Paetau, A, MD PhD, Piirilä, P, MD PhD, Pohju, A, RD MSc, Salmi, T, MD PhD, Lamminen, A, MD PhD, Löfberg, M, MD PhD, Mosegaard, S, MSc, Olsen, RK, MSc PhD, Tyni, T, MD PhD
Published in Neuromuscular disorders : NMD (01.06.2017)
Published in Neuromuscular disorders : NMD (01.06.2017)
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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
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy
Ryder, B., Tolomeo, M., Nochi, Z., Colella, M., Barile, M., Olsen, R. K., Inbar-Feigenberg, M.
Published in JIMD Reports, Volume 45 (2019)
Published in JIMD Reports, Volume 45 (2019)
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Book Chapter
Journal Article
Lipid‐storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late‐onset multiple acyl‐CoA dehydrogenation deficiency
Olsen, R. K. J., Pourfarzam, M., Morris, A. A. M., Dias, R. C., Knudsen, I., Andresen, B. S., Gregersen, N., Olpin, S. E.
Published in Journal of inherited metabolic disease (01.01.2004)
Published in Journal of inherited metabolic disease (01.01.2004)
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Journal Article
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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Journal Article
Neural Basis of Genetically Determined Visuospatial Construction Deficit in Williams Syndrome
Meyer-Lindenberg, Andreas, Kohn, Philip, Mervis, Carolyn B., Kippenhan, J.Shane, Olsen, Rosanna K., Morris, Colleen A., Berman, Karen Faith
Published in Neuron (Cambridge, Mass.) (02.09.2004)
Published in Neuron (Cambridge, Mass.) (02.09.2004)
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Journal Article
Studies of tumor-infiltrating lymphocytes from a human choroidal melanoma
Ksander, BR, Rubsamen, PE, Olsen, KR, Cousins, SW, Streilein, JW
Published in Investigative ophthalmology & visual science (01.12.1991)
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Published in Investigative ophthalmology & visual science (01.12.1991)
Journal Article
The effectiveness of nationally implemented smoking interventions in Denmark
Kjaer, N.T, Evald, T, Rasmussen, M, Juhl, H.H, Mosbech, H, Olsen, K.R
Published in Preventive medicine (01.07.2007)
Published in Preventive medicine (01.07.2007)
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Journal Article
Results and complications in treated retinal breaks
Smiddy, W E, Flynn, Jr, H W, Nicholson, D H, Clarkson, J G, Gass, J D, Olsen, K R, Feuer, W
Published in American journal of ophthalmology (15.12.1991)
Published in American journal of ophthalmology (15.12.1991)
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Journal Article
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia
Joost, K., Õunap, K., Žordania, R., Uudelepp, M.-L., Olsen, R. K., Kall, K., Kilk, K., Soomets, U., Kahre, T.
Published in JIMD Reports - Case and Research Reports, 2011/2 (01.01.2012)
Published in JIMD Reports - Case and Research Reports, 2011/2 (01.01.2012)
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Book Chapter
Journal Article
Traumatic macular hole: Observations, pathogenesis, and results of vitrectomy surgery
Johnson, Robert N, McDonald, H.Richard, Lewis, Hilel, Grand, M.Gilbert, Murray, Timothy G, Mieler, William F, Johnson, Mark W, Boldt, H.Culver, Olsen, Karl R, Tornambe, Paul E, Folk, James C
Published in Ophthalmology (Rochester, Minn.) (01.05.2001)
Published in Ophthalmology (Rochester, Minn.) (01.05.2001)
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