(Q28065544)
English
methylmalonic acidemia due to transcobalamin receptor defect
methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has material basis in mutation in the CD320 gene
- methylmalonic acidemia, TCb1R type
- methylmalonic acidemia, TCbIR type
- methylmalonic aciduria due to transcobalamin receptor defect
- methylmalonic acidemia, TCblR type
Statements
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C183527
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Identifiers
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