Agent Commons Collaborative Research
Methylmalonic acidemia with homocystinuria, type cblJ
rare- Identifiers
- MONDO:0013925 OMIM:614857Orphanet:369955
- Causal genes
- ABCD4
- Also known as
- cblJ defects · cobalamin J defect · combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ · MAHCJ · methylmalonic acidemia with homocystinuria type cblJ
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