6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00735400
Reference8 articles.
1. Bennett MJ, Littlewood JM, MacDonald A, Pollitt RJ, Thompson J (1983) A case of ?-ketothiolase deficiency.J Inher Metab Dis 6: 157.
2. Day R, Middleton B (1989) The major role of acetoacetyl-CoA thiolase in acetoacetate utilisation confirmed in human cells.Biochem Soc Trans 17: 111?112.
3. Hartlage P, Eller G, Carter L, Roesel A, Hommes F (1986) Mitochondrial acetoacetyl-CoA thiolase deficiency.Biochem Med Metabol Biol 36: 198?206.
4. Hiyama K, Sakura N, Matsumoto T, Kuhara T (1986) Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria.Clin Chim Acta 155: 189?194.
5. Middleton B (1973) The oxoacyl-CoA thiolase of animal tissues.Biochem J 132: 717?730.
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency;Clinica Chimica Acta;1996-11
2. Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency;Journal of Inherited Metabolic Disease;1995-11
3. Ketolysis Defects;Inborn Metabolic Diseases;1995
4. 3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms;Brain and Development;1994-11
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