Isolated 3-methylcrotonyl-CoA carboxylase deficiency: Evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy

Matthias R. Baumgartner, M. Fernanda Dantas, Terttu Suormala, Shlomo Almashanu, Cecilia Giunta, Dolores Friebel, Boris Gebhardt, Brian Fowler, Georg F. Hoffmann, E. Regula Baumgartner, David Valle

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Medicine & Life Sciences