3-Methycrotonyl-CoA Carboxylase Deficiency: Types I and II
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1719-1
Reference31 articles.
1. Arnold GL et al (2008) A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 93:363–370. https://doi.org/10.1016/j.ymgme.2007.11.002
2. Baumgartner MR et al (2001) The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest 107:495–504. https://doi.org/10.1172/JCI11948
3. Baumgartner MR et al (2004) Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. Am J Hum Genet 75:790–800. https://doi.org/10.1086/425181
4. Beemer FA, Bartlett K, Duran M, Ghneim HK, Wadman SK, Bruinvis L, Ketting D (1982) Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. Eur J Pediatr 138:351–354. https://doi.org/10.1007/BF00442517
5. Eldjarn L, Jellum E, Stokke O, Pande H, Waaler PE (1970) Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism. Lancet 2:521–522. https://doi.org/10.1016/s0140-6736(70)90140-6
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