Browsing by Subject "3-Methylcrotonyl-CoA carboxylase deficienc"

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Transcriptomic and functional characterisation of marginal and clinically severe 3-methylcrotonyl-CoA carboxylase deficiency

Zandberg, Lizelle (North-West University (South Africa), 2015)

Urinary 3-hydroxyisovaleric acid and 3-methylcrotonylglycine are usually indicative of the possibility of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency. In this study a South African family which presented with these ...