Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference10 articles.
1. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting with life-threatening hypoglycemia;Bartlett;J Inher Metab Dis,1984
2. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs;Beemer;Eur J Pediatr,1982
3. Isolated (biotin resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at the age of 20 months with sopor, hypoglycaemia and ketoacidosis;Gitzelmann;J Inher Metab Dis,1987
4. Isolated 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye's like syndrome;Kobori;Pediatr Res,1989
5. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness;Layward;J Inher Metab Dis,1989
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