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Journal of Inherited Metabolic Disease|August 12, 2021
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratioFrédéric M Vaz, Henk van Lenthe, Martin A T Vervaart, et al.Molecular Genetics and Metabolism|January 24, 2007
Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structureSatomi Sakurai, Toshiyuki Fukao, Antti M Haapalainen, et al.Journal of Inherited Metabolic Disease|September 16, 2003
High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal diseaseN A Oey, M E J den Boer, J P N Ruiter, et al.Neuropediatrics|April 19, 2011
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhoodB T van Maldegem, S F Kloosterman, W J Janssen, et al.American Journal of Medical Genetics. Part A|September 2, 2003
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndromeFernanda A A Langius, Hans R Waterham, Gerrit Jan Romeijn, et al.Pediatric Research|July 12, 2005
Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorderKazuyuki Hashimoto, Zenichiro Kato, Tomoko Nagase, et al.Journal of Inherited Metabolic Disease|July 27, 2012
Sjögren-Larsson syndrome in clinical practiceJoris Fuijkschot, Thomas Theelen, Marieke M B Seyger, et al.Journal of Inherited Metabolic Disease|June 1, 2006
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduriaGabriella Di Rosa, Federica Deodato, Ference J Loupatty, et al.Biochimica Et Biophysica Acta|February 27, 2007
Studies on the extra-mitochondrial CoA -ester formation of valproic and Delta4 -valproic acidsCátia C P Aires, Jos P N Ruiter, Paula B M Luís, et al.Metabolism: Clinical and Experimental|January 3, 2012
Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): an identified ketosis-induced metaboliteMaarten R Soeters, Mireille J Serlie, Hans P Sauerwein, et al.Pageof 48