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• W1975525452 abstract "Journal of Inherited Metabolic DiseaseVolume 18, Issue 2 p. 227-229 Short Communication Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase S. Kmoch, S. Kmoch Center for Inherited Metabolic Disorders, General Faculty Hospital and Charles University 1st School of Medicine, Prague, Czech RepublicSearch for more papers by this authorJ. Zeman, J. Zeman Center for Inherited Metabolic Disorders, General Faculty Hospital and Charles University 1st School of Medicine, Prague, Czech RepublicSearch for more papers by this authorM. Hrebíček, M. Hrebíček Center for Inherited Metabolic Disorders, General Faculty Hospital and Charles University 1st School of Medicine, Prague, Czech RepublicSearch for more papers by this authorL. Ryba, L. Ryba Pediatrics Department of Hospital Ústí nad Orlicí, Czech RepublicSearch for more papers by this authorM. J. Kristensen, M. J. Kristensen Center for Medical Molecular Biology, Aarhus University Hospital, DenmarkSearch for more papers by this authorN. Gregersen, N. Gregersen Center for Medical Molecular Biology, Aarhus University Hospital, DenmarkSearch for more papers by this author S. Kmoch, S. Kmoch Center for Inherited Metabolic Disorders, General Faculty Hospital and Charles University 1st School of Medicine, Prague, Czech RepublicSearch for more papers by this authorJ. Zeman, J. Zeman Center for Inherited Metabolic Disorders, General Faculty Hospital and Charles University 1st School of Medicine, Prague, Czech RepublicSearch for more papers by this authorM. Hrebíček, M. Hrebíček Center for Inherited Metabolic Disorders, General Faculty Hospital and Charles University 1st School of Medicine, Prague, Czech RepublicSearch for more papers by this authorL. Ryba, L. Ryba Pediatrics Department of Hospital Ústí nad Orlicí, Czech RepublicSearch for more papers by this authorM. J. Kristensen, M. J. Kristensen Center for Medical Molecular Biology, Aarhus University Hospital, DenmarkSearch for more papers by this authorN. Gregersen, N. Gregersen Center for Medical Molecular Biology, Aarhus University Hospital, DenmarkSearch for more papers by this author First published: 01 March 1995 https://doi.org/10.1007/BF00711774Citations: 14 Center for Inherited Metabolic Disorders, Karlovo namesti 32, Prague 2, 121 11, Czech Republic AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Amendt BA, Green C, Sweetman L et al (1987) Short chain acyl-coenzyme A dehydrogenase deficiency, clinical and biochemical studies in two patients. J Clin Invest, 79: 1303–1309. 2Coates PM, Hale DE, Finocchiaro G, Tanaka K, Winter C (1988) Genetic deficiency of short chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness. J Clin Invest, 81: 171–175. 3Kristensen MJ, Bhala A, Hale DE, Jensen TG, Gregersen N (1993) Identification of new point mutations in patients with short chain acyl-CoA dehydrogenase deficiency.. Am J Hum Genet, 53, A915. 4Kristensen MJ, Kmoch S, Bross P, Andresen BS, Gregersen N (1994) Amino acid polymorphism (Gly209Ser) in the ACADS gene. Hum Mol Genet, 3: 1711. 5Manning NJ, Olpin SE, Pollitt RJ, Webley J (1990) A comparison of [9-10-3H]palmitic and [9-10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact skin fibroblasts. J Inher Metab Dis, 13: 58–68. 6Ponchaut S, vanHoof F, Veitch K (1992) In vitro effects of valproate metabolites on mitochondrial oxidation. Biochem Pharmacol, 43: 2435–2442. 7Turnbull DM, Shepherd IM, Bartlett K, Sherratt HSA, Tanaka K, Coates PM (1990) Short-chain acyl-CoA dehydrogenase deficiency. In: Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects, New York: Alan R. Liss, 313–324. 8Wanders RJA, vanRoermund CWT, deVries CT et al (1986) Peroxisomal β-oxidation of palmitoyl-CoA in human liver homogenate and its deficiency in the Zellweger syndrome. Clin Chim Acta, 159: 1–10. Citing Literature Volume18, Issue2March 1995Pages 227-229 ReferencesRelatedInformation" @default.
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