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Baumgartner, M R; Valle, D (2012). Disorders of ornithine metabolism. In: Saudubray, J M; van den Berghe, G; Walter, J H. Inborn metabolic diseases: diagnosis and treatment (5th ed.). Berlin, DE: Springer, 323-332.

Stucki, M; Suormala, T; Fowler, B; Valle, D; Baumgartner, M R (2009). Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. Journal of Biological Chemistry, 284(42):28953-28957.

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