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Registration number of the article: R000025857, UMIN: UMIN000022552

For MMA, knowledge of the underlying enzymatic defect [25],[92] and the underlying genotype (mut 0 , mut - , cblA, cblB or cblD-variant 2) [1],[87],[90],[93]-[95] is of great importance since residual enzyme activity and vitamin B 12 -reponsiveness influences the clinical course and can be associated with a better long term outcome

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