Search Results - "Olsen, K J"

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency by 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.

“…Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid, amino acid and choline metabolism that can result from defects in two…”
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Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency by CORNELIUS, Nanna, FRERMAN, Frank E, CORYDON, Thomas J, PALMFELDT, Johan, BROSS, Peter, GREGERSEN, Niels, OLSEN, Rikke K. J

“…Riboflavin-responsive forms of multiple acyl-CoA dehydrogenation deficiency (RR-MADD) have been known for years, but with presumed defects in the formation of…”
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Mitochondrial fatty acid oxidation defects—remaining challenges by Gregersen, Niels, Andresen, Brage S., Pedersen, Christina B., Olsen, Rikke K. J., Corydon, Thomas J., Bross, Peter

“…Summary Mitochondrial fatty acid oxidation defects have been recognized since the early 1970s. The discovery rate has been rather constant, with 3–4 ‘new’…”
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Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency by 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

“…Coenzyme Q10 (CoQ10) is essential for the energy production of the cells and as an electron transporter in the mitochondrial respiratory chain. CoQ10 links the…”
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Human inborn errors of long‐chain fatty acid oxidation show impaired inflammatory responses to TLR4‐ligand LPS by 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.

“…Stimulation of mammalian cells with inflammatory inducers such as lipopolysaccharide (LPS) leads to alterations in activity of central cellular metabolic…”
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Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism by Olsen, Rikke K. J., Cornelius, Nanna, Gregersen, Niels

“…Mitochondria play a key role in overall cell physiology and health by integrating cellular metabolism with cellular defense and repair mechanisms in response…”
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Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study by 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.

“…Background Alpha-mannosidosis (OMIM 248500) is a rare lysosomal storage disease (LSD) caused by alpha-mannosidase deficiency. Manifestations include…”
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Disease mechanisms and protein structures in fatty acid oxidation defects by Gregersen, Niels, Olsen, Rikke K. J

“…In fatty acid oxidation defects, the majority of gene variations are of the missense type and, therefore, prone to inducing misfolding in the resulting mutant…”
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Bioenergetic and Proteomic Profiling of Immune Cells in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients: An Exploratory Study by 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

“…Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a heterogeneous, debilitating, and complex disease. Along with disabling fatigue, ME/CFS…”
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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 by Korsatko, S., Glettler, K., Olsen, K. J., Wutte, A., Bock, G., Koehler, G., Mader, J. K., Semlitsch, B., Pieber, T. R.

“…Aims To compare the pharmacodynamic properties of insulin detemir (detemir) and neutral protamine lispro (NPL) insulin using a euglycaemic glucose clamp…”
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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 by 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

“…Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a fatty acid oxidation disorder with especially high mortality and uncertain long-term…”
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Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function by 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.

“…Alpha‐mannosidosis (AM) (OMIM 248500) is a rare lysosomal storage disease. The understanding of the central nervous system (CNS) pathology is limited. This…”
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FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening by Muru, Kai, Reinson, Karit, Künnapas, Kadi, Lilleväli, Hardo, Nochi, Zahra, Mosegaard, Signe, Pajusalu, Sander, Olsen, Rikke K. J., Õunap, Katrin

“…Background Multiple acyl‐CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is a mitochondrial fatty acid oxidation disorder caused…”
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Kinetics, mechanism, and thermochemistry of the gas-phase reaction of atomic chlorine with pyridine by Zhao, Z, Huskey, D T, Olsen, K J, Nicovich, J M, McKee, M L, Wine, P H

“…A laser flash photolysis-resonance fluorescence technique has been employed to study the kinetics of the reaction of atomic chlorine with pyridine (C(5)H(5)N)…”
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Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency by 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.

“…Summary General mitochondrial trifunctional protein (TFP) deficiency leads to a wide clinical spectrum of disease ranging from severe neonatal/infantile…”
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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 by 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

“…Riboflavin, or vitamin B2, is a precursor to flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) molecules, required in biological…”
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FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts by García‐Villoria, Judit, De Azua, Begoña, Tort, Frederic, Mosegaard, Signe, Ugarteburu, Olatz, Texidó, Laura, Morales‐Romero, Blai, Olsen, Rikke K.J., Ribes, Antonia

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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 by 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

“…Expanded newborn screening for selected inborn errors of metabolism (IEM) in Denmark, the Faroe Islands and Greenland was introduced in 2002. We now present…”
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Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency by Edhager, Anders V., Stenbroen, Vibeke, Nielsen, Nadia Sukusu, Bross, Peter, Olsen, Rikke K.J., Gregersen, Niels, Palmfeldt, Johan

“…Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare inherited autosomal recessive disorder with not yet well established mechanisms of disease. In…”
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Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis by Borgwardt, L., Thuesen, A. M., Olsen, K. J., Fogh, J., Dali, C. I., Lund, A. M.

“…Background Alpha-mannosidosis (OMIM 248500) (AM) is a rare lysosomal storage disease caused by a deficiency of the alpha-mannosidase enzyme. The typical signs…”
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