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Items: 5

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#251120 - METHYLMALONYL-CoA EPIMERASE DEFICIENCY

METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY, INCLUDED

Cytogenetic locations: 2p13.3

5.

#251000 - METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY

METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED

Cytogenetic locations: 6p12.3

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