Inborn errors of ketone body metabolism [electronic resource] / Toshiyuki Fukao.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Protein epidemiology: Publisher: London : Henry Stewart Talks, 2016Description: 1 online resource (1 streaming video file (33 min.) : color, sound)Subject(s): Acetyltransferases | Ketones -- Metabolism | Metabolism, Inborn errors of | Proteins -- Conformation | Acetyl-CoA C-Acetyltransferase -- deficiency | Acetyl-CoA C-Acetyltransferase -- genetics | Acidosis -- genetics | Acidosis -- metabolism | Amino Acid Metabolism, Inborn Errors -- diagnosis | Amino Acid Metabolism, Inborn Errors -- genetics | Amino Acid Metabolism, Inborn Errors -- metabolism | Beta ketothiolase deficiency | Coenzyme A-Transferases -- genetics | Coenzyme A-Transferases -- metabolism | Ketone Bodies -- metabolism | Mitochondria -- enzymology | Molecular Structure | Protein Conformation | Succinyl-CoA:3-oxoacid CoA transferase deficiencyOnline resources: Click here to access online | Series Animated audio-visual presentation with synchronized narration.
Title from title frames.
Updated version of a talk first published in 2007.
Contents: Ketone body metabolism -- Diagnostic approach -- Defects in ketogenesis -- Defects in ketone body utilization (succinyl-CoA:3-ketoacid CoA transferase deficiency, mitochondrial acetoacetyl-CoA thiolase deficiency) -- Molecular basis of mitochondrial acetoacetyl-CoA thiolase deficiency (protein and DNA levels).
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Mode of access: World Wide Web.