(Q18553422)
English
methylmalonic aciduria and homocystinuria type cblF
methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl)
- Cobalamin F deficiency
- Methylmalonic Aciduria Due to Vitamin B12-Release Defect
- Cobalamin F defect
- Cobalamin, Defect 1N Lysosomal Release of
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
- Methylmalonic aciduria with homocystinuria, type cblF
- Vitamin B12 Lysosomal Release Defect
- Cobalamin F Disease
- Methylmalonic Acidemia and Homocystinuria, Cblf Type
- Vitamin B12 Storage Disease
- CblF defect
- METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
- Lysosomal membrane cobalamin transporter deficiency
- Methylmalonic acidemia with homocystinuria type cblF
Statements
5 references
1 reference
C183525
0 references
1 reference
Identifiers
1 reference
1 reference
1 reference
1 reference
1 reference
1 reference