Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

. Author manuscript; available in PMC: 2019 Jun 5.

Published in final edited form as: J Inherit Metab Dis. 2015 May 30;39(1):115–124. doi: 10.1007/s10545-015-9860-6

Figure 2. Percentage of individuals presenting with specific symptoms at diagnosis and during the course by very low (<1.5% ; n=14 patients) and higher (n=19 patients) in vitro residual enzyme activity.