Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: An inborn error of isoleucine and ketone body metabolism
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711314
Reference41 articles.
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2. Bennett MJ, Littlewood JM, MacDonald A, Pollitt RJ, Thompson J (1983) A case of ?-ketothiolase deficiency.J Inher Metab Dis 6: 157.
3. Daum RS, Mamer OA, Lamm PH, Scriver CR (1971) A ?new? disorder of isoleucine catabolism.Lancet 2: 1289?1290.
4. Daum RS, Scriver CR, Mamer OA, Delvin E, Lamm P, Goldman H (1973) An inherited disorder of isoleucine catabolism causing accumulation of ?-methylacetoacetate and ?-methyl-?-hydroxybutyrate, and intermittent metabolic acidosis.Pediatr Res 7: 149?160.
5. De Groot CJ, Luit-de Haan C, Hulstaert CE, Hommes FA (1977) A patient with severe neurologic symptoms and acetoacetyl-CoA thiolase deficiency.Pediatr Res 11: 1112?1116.
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