Ketonämien
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/978-3-540-76460-1_40
Reference5 articles.
1. Bonnefont JP, Specola NB, Vassault A et al. (1990) The fasting test in pediatrics: application to the diagnosis of pathological hypoand hyperketotic states. Eur J Pediatr 150: 80–85
2. Fukao T, Scriver CR, Kondo N; t2 Collaborative Working Group (2001) The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. Mol Genet Metab 72:109–114
3. Fukao T, Shintaku H, Kusubae R et al. (2004) Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis. Pediatr Res 56: 858–863
4. Morris AAM (2000) Disorders of ketogenesis and ketolysis. In: Fernandes J, Saudubray JM, Berghe G van den (eds) Inborn metabolic diseases. Springer, Berlin Heidelberg New York Tokyo, pp 152–156
5. Nyhan WL, Ozand PT (1998) 3-Oxothiolase deficiency. In: Nyhan WL, Ozand PT (eds) Atlas of metabolic diseases. Chapman & Hill, London, pp 87–93
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