Publications

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Piekutowska-Abramczuk D, Olsen RKJ, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, et al. 2010. A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. Journal of Inherited Metabolic Disease. https://doi.org/10.1007/s10545-010-9190-7
Piekutowska-Abramczuk D, Olsen R, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, et al. 2010. A comprehensive HADHA c.1528G>C frequency studyreveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. Journal of Inherited Metabolic Disease.
Dessein A-F, Fontaine M, Andresen BS, Gregersen N, Brivet M, Rabier D, Napuri-Gouel S, Dobbelaere D, Mention-Mulliez K, Martin-Ponthieu A, et al. 2010. A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report. Orphanet Journal of Rare Diseases. 5:26. https://doi.org/10.1186/1750-1172-5-26
Henriques BJ, Olsen RK, Bross P, Gomes CM. 2010. Emerging roles for riboflavin in functional rescue of mitochondrial β-oxidation flavoenzymes. Current Medicinal Chemistry. 17(32):3842-54.
Olsen R, Dobrowolski SF, Kjeldsen M, Hougaard D, Simonsen H, Gregersen N, Andresen BS. 2010. High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. Journal of Inherited Metabolic Disease. 33:247-60.
Sykut-Cegielska J, Gradowska W, Piekutowska-Abramczuk D, Andresen BS, Olsen R, Ołtarzewski M, Pronicki M, Pajdowska M, Bogdańska A, Jabłońska E, et al. 2010. Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. Journal of Inherited Metabolic Disease. 34/1(185-95).
Li J, Zhang Z, Vang S, Yu J, Wong GK-S, Wang J. 2009. Correlation between Ka/Ks and Ks is related to substitution model and evolutionary lineage. Journal of Molecular Evolution. 68(4):414-23. https://doi.org/10.1007/s00239-009-9222-9
Gregersen N. 2009. Mitochondrial fatty acid oxidation deficiencies: Remaining challenges. Abstract from Komrower Lecture at Society for the Study of Inborn Errors of Metabolism, Portugal.
Svenstrup K, Bross P, Koefoed P, Hjermind LE, Eiberg H, Born AP, Vissing J, Gyllenborg J, Nørremølle A, Hasholt L, et al. 2009. Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. Journal of the Neurological Sciences. 284(1-2):90-5. https://doi.org/10.1016/j.jns.2009.04.024
Rohde MC, Schmidt S, Corydon TJ, Banner J, Gregersen N. 2008. Cell stress markers in cases of sudden unexpected death in infancy. Abstract from SIDS  10th International Conference 2008, Portsmouth, United Kingdom.
Xu S, Clark T, Zheng H, Vang S, Li R, Wong G, Wang J, Zheng X. 2008. Gene conversion in the rice genome. BMC Genomics. 9(1):93. https://doi.org/10.1186/1471-2164-9-93
Rohde MC, Schmidt S, Banner J, Corydon TJ, Gregersen N. 2008. Hyperthermal cell stress response in cases of sudden infant death. Abstract from International Association of Forensic Sciences 18th triennial meeting, New Orleans, United States.
Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, et al. 2008. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. American Journal of Human Genetics. 83(1):30-42. https://doi.org/10.1016/j.ajhg.2008.05.016