3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

Maria Fernanda Dantas, Terttu Suormala, Ann Randolph, David Coelho, Brian Fowler, David Valle, Matthias R. Baumgartner

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37 Scopus citations

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Medicine & Life Sciences