Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency |
308425 |
MCEE
|
|
Methylmalonic Aciduria, mut(0) Type |
C1855115 |
MMUT
|
|
Methylmalonic Aciduria, mut(-) Type |
C1855116 |
MMUT
|
|
Methylmalonic aciduria cblB type |
C1855102 |
MVK
|
23707710 |
MMAB
|
24516753, 12471062, 29039164, 24059531, 17410422, 20696242, 17957493, 16410054, 22614770, 19625202, 20549364, 18251506, 21048060, 27604308, 23674520, 17948227, 23707710, 15781192, 20556797, 21604717, 29197662, 22695176, 17176040, 16439175, 15044458 |
Methylmalonic Aciduria, CblD Type, Variant 2 |
C1848554 |
MMADHC
|
|
Methylmalonic aciduria cblA type |
C1855109 |
MMAA
|
15308131, 17957493, 27604308, 16247646, 28497574, 25525159, 15523652, 21545677, 27591164, 15781192, 23026888, 12438653, 26270765, 20876572 |
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT |
C3150900 |
CD320
|
20524213 |