Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01799234
Reference4 articles.
1. Bartlett, K., Bennett, M. J., Hill, R. P., Lashford, L. S., Pollitt, R. J. and Worth, H. G. J. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.J. Inher. Metab. Dis. 7 (1984) 182
2. Beemer, F. A., Bartlett, K., Duran, M., Ghneim, H. K., Wadman, S. K., Bruinvis, L. and Ketting, D. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.Eur. J. Pediatr. 138 (1982) 351–354
3. Gitzelmann, R., Steinmann, B., Niederweiser, A., Fanconi, S., Suormala, T. and Baumgartner, R. Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age 20 months with sopor, hypoglycaemia and ketoacidosis.J. Inher. Metab. Dis., 10 Suppl. 2 (1987) 290–292
4. Gompertz, D., Goodey, P. A. and Bartlett, K. Evidence for the enzymatic defect in β-methylcrotonylglycinuria.FEBS Lett. 32 (1973) 13–14
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