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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Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment
Burda, P., Kuster, A., Hjalmarson, O., Suormala, T., Bürer, C., Lutz, S., Roussey, G., Christa, L., Asin-Cayuela, J., Kollberg, G., Andersson, B. A., Watkins, D., Rosenblatt, D. S., Fowler, B., Holme, E., Froese, D. S., Baumgartner, M. R.
Published in Journal of inherited metabolic disease (01.09.2015)
Published in Journal of inherited metabolic disease (01.09.2015)
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Tyrosinaemia type I and NTBC (2‐(2‐nitro‐4‐trifluoromethylbenzoyl)‐1,3‐cyclohexanedione)
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Conference Proceeding
Cardiomyopathy in children with mitochondrial disease: Clinical course and cardiological findings
HOLMGREN, D, WAHLANDER, H, ERIKSSON, B. O, OLDFORS, A, HOLME, E, TULINIUS, M
Published in European heart journal (01.02.2003)
Published in European heart journal (01.02.2003)
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Journal Article
Ophthalmological findings in children and young adults with genetically verified mitochondrial disease
Grönlund, M A, Honarvar, A K Seyedi, Andersson, S, Moslemi, A R, Oldfors, A, Holme, E, Tulinius, M, Darin, N
Published in British journal of ophthalmology (01.01.2010)
Published in British journal of ophthalmology (01.01.2010)
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The effect of supervised rehabilitation on strength, postural sway, position sense and re-injury risk after acute ankle ligament sprain
Holme, E., Magnusson, S. P., Becher, K., Bieler, T., Aagaard, P., Kjær, M.
Published in Scandinavian journal of medicine & science in sports (01.04.1999)
Published in Scandinavian journal of medicine & science in sports (01.04.1999)
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Association between antibodies to heat shock protein 65 and coronary atherosclerosis : Possible mechanism of action of Helicobacter pylori and other bacterial infections in increasing cardiovascular risk
BIRNIE, D. H, HOLME, E. R, MCKAY, I. C, HOOD, S, MCCOLI, K. E. L, HILLIS, W. S
Published in European heart journal (01.03.1998)
Published in European heart journal (01.03.1998)
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OP5 – 2696: Pyruvate dehydrogenase complex deficiency: Phenotype–genotype, phenotype–neuroimaging associations and treatment outcomes
Sofou, K, Kollberg, G, Mitsis, M, Michael, E, Viggedal, G, Holme, E, Hallböök, T, Tulinius, M, Darin, N
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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P79 Plasma succinylacetone is raised after liver transplantation for tyrosinaemia type 1 and is associated with reduced porphobilinogen synthase activity suggesting it is functional
Bartlett, D C, Preece, M A, Holme, E, Lloyd, C, Newsome, P N, McKiernan, P J
Published in Gut (01.09.2011)
Published in Gut (01.09.2011)
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Journal Article
Deficiency of mitochondrial ATP synthase of nuclear genetic origin
Sperl, W., Ješina, P., Zeman, J., Mayr, J.A., DeMeirleir, L., VanCoster, R., Pícková, A., Hansíková, H., Houšt’ková, H., Krejčík, Z., Koch, J., Smet, J., Muss, W., Holme, E., Houštěk, J.
Published in Neuromuscular disorders : NMD (01.12.2006)
Published in Neuromuscular disorders : NMD (01.12.2006)
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Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
Lindstedt, S, Holme, E, Lock, E.A, Hjalmarson, O, Strandvik, B
Published in The Lancet (British edition) (03.10.1992)
Published in The Lancet (British edition) (03.10.1992)
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Journal Article
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
VAN KUILENBURG, A. B. P, VREKEN, P, CHRISTENSEN, E, HOLOPAINEN, I, PULKKI, K, RIVA, D, BOTTEON, G, HOLME, E, TULINIUS, M, KLEIJER, W. J, BEEMER, F. A, DURAN, M, ABELING, N. G. G. M, NIEZEN-KONING, K. E, SMIT, G. P. A, JAKOBS, C, SMIT, L. M. E, MOOG, U, SPAAPEN, L. J. M, VAN GENNIP, A. H, BAKKER, H. D, MEINSMA, R, VAN LENTHE, H, DE ABREU, R. A, SMEITINK, J. A. M, KAYSERILI, H, APAK, M. Y
Published in Human genetics (01.01.1999)
Published in Human genetics (01.01.1999)
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Low Levels of Mitochondrial Transcription Factor A in Mitochondrial DNA Depletion
Larsson, N.G., Oldfors, A., Holme, E., Clayton, D.A.
Published in Biochemical and biophysical research communications (16.05.1994)
Published in Biochemical and biophysical research communications (16.05.1994)
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Journal Article
SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency
Moslemi, A-R, Tulinius, M, Darin, N, Aman, P, Holme, E, Oldfors, A
Published in Neurology (14.10.2003)
Published in Neurology (14.10.2003)
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Progressive encephalopathy and complex I deficiency associated with mutations in MTND1
Moslemi, A-R, Darin, N, Tulinius, M, Wiklund, L-M, Holme, E, Oldfors, A
Published in Neuropediatrics (01.02.2008)
Published in Neuropediatrics (01.02.2008)
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A novel and efficient method for identifying cotton leafroll dwarf virus infection in upland cotton (Gossypium hirsutum)
Taluja, Serina M., Cheek, Brianna L., Vaughn, Robert N., Alabi, Olufemi J., Holme, John E., Jain, Nisha, Stelly, David M.
Published in Plant breeding (01.04.2023)
Published in Plant breeding (01.04.2023)
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