3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 27 probands, 9 symptomatic and 18 detected by newborn screening. - Dantas,M.F.; Suormala,T.; Randolph,A.; Coelho,D.; Fowler,B.; Valle,D.; Baumgartner,M.R. (Hum Mutat, 2005)