Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency-Reference-Cited by-同舟云学术

Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency

Published:1991-01 Issue:1 Volume:14 Page:63-74
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Aramaki S.,Lehotay D.,Sweetman L.,Nyhan W. L.,Winter S. C.,Middleton B.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01804391

Reference11 articles.

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2. Gompertz, D., Saudubray, J. M., Charpentier, C., Bartlett, K., Goodey, P. A. and Draffan, G. H. A defect inl-isoleucine metabolism associated with α-methyl-β-hydroxybutyric and α-methylacetoacetic aciduria: Quantitativein vivo andin vitro studies.Clin. Chim. Acta 57 (1974) 269–281

3. Hillman, R. E. and Keating, J. P. Beta-ketothiolase deficiency as a cause of the ‘ketotic hyperglycinemia syndrome’.Pediatrics 53 (1974) 221–225

4. Hiyama, K., Sakura, N., Matsumoto, T. and Kuhara, T. Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylactoacetic aciduria.Clin. Chim. Acta 155 (1986) 189–194

5. Hoffmann, G., Aramaki, S., Blum-Hoffmann, E., Nyhan, W. L. and Sweetman, L. Quantitative analysis for organic acids in biological samples: Batch isolation followed by gas chromatographic-mass spectrometric analysis.Clin. Chem. 35 (1989) 587–595

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