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Molecular Genetics and Metabolism|April 28, 2004
Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acidDaan M van den Brink, Joram N I van Miert, Georges Dacremont, et al.
Gut|May 12, 2005
Eosinophil granulocytes are activated during the remission phase of ulcerative colitisM Lampinen, A Rönnblom, K Amin, et al.
Journal of Inherited Metabolic Disease|October 25, 2013
Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligasesPaula B M Luís, Jos Ruiter, Lodewijk IJlst, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 13, 2016
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH geneGudrun Schottmann, Akosua Sarpong, Carmen Lorenz, et al.
Neuropediatrics|April 19, 2016
Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal DisordersFemke C C Klouwer, Irene C Huffnagel, Sacha Ferdinandusse, et al.
Neurology|December 11, 2002
Biochemical markers predicting survival in peroxisome biogenesis disordersJ Gootjes, P A W Mooijer, C Dekker, et al.
The Journal of Pediatrics|July 3, 2003
Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvementMargarethe E J den Boer, Carlo Dionisi-Vici, Anupam Chakrapani, et al.
Nederlands Tijdschrift Voor Geneeskunde|November 19, 2010
[Recurrent rhabdomyolysis: screening for underlying disease]Rodi Zutt, Anneke J van der Kooi, Gabor E Linthorst, et al.
American Journal of Physiology. Endocrinology and Metabolism|August 20, 2015
Carnitine supplementation in high-fat diet-fed rats does not ameliorate lipid-induced skeletal muscle mitochondrial dysfunction in vivoBart Wessels, Nicole M A van den Broek, Jolita Ciapaite, et al.
Biochimica Et Biophysica Acta|October 19, 2002
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiencyJürgen G Okun, Stefan Kölker, Andreas Schulze, et al.
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