Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01800223
Reference13 articles.
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2. Bartlett K, Bennett MJ, Hill RP, Lashford LS, Pollit RJ, Worth HGJ (1984) Isolated biotinresistant 3-methylcrotonyl-CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.J Inher Metab Dis 7: 182.
3. Beemer FA, Bartlett K, Duran M et al (1982) Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.Eur J Pediatr 138: 351–354.
4. Finnie MDA, Cottrall K, Seakins JWT, Snedden W (1976) Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with deficiency of 3-methylcrotonyl-CoA carboxylase.Clin Chim Acta 73: 513–519.
5. Gitzelmann B, Steinmann B, Niederwieser A, Fanconi S, Suormala T, Baumgartner R (1987) Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age of 20 months with sopor, hypoglycaemia and ketoacidosis.J Inher Metab Dis 10 (suppl 2): 290–292.
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