A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00710423
Reference9 articles.
1. Lowry OH, Rosenbrough NJ, Farr AL, Randall RJ (1951) Protein measurement with Folin phenol reagent.J Biol Chem 193: 265?275.
2. Markwell MAK, Hass SM, Bieber LL, Tolbert NE (1978) A modification of the Lowry procedure to simplify protein determination in membrane and lipoprotein samples.Anal Biochem 87: 206?210.
3. Middleton B, Day R, Lombes A, Saudubray JM (1987) Infantile ketoacidosis associated with decreased activity of succinyl-CoA:3-ketoacid CoA-transferase.J Inher Metab Dis 10 (supplement 2): 273?275.
4. Perez-Cerda C, Merinero B, Sanz P, et al (1992) A new case of succinyl-CoA:acetoacetate transferase deficiency.J Inher Metab Dis 15: 371?373.
5. Saudubray JM, Specola N, Middleton B et al (1987) Hyperketotic states due to inherited defects of ketolysis.Enzyme 38: 80?90.
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