Query author contributions in Reactome
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Details on Person methylmalonic aciduria and homocystinuria type cblF
| Class:Id | Disease:3359452 |
|---|---|
| _displayName | methylmalonic aciduria and homocystinuria type cblF |
| _timestamp | 2013-05-13 11:50:48 |
| created | [InstanceEdit:3359453] Jassal, B, 2013-05-13 |
| definition | A 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). |
| identifier | 0050717 |
| name | methylmalonic aciduria and homocystinuria type cblF |
| referenceDatabase | [ReferenceDatabase:1247631] DOID |
| synonym | Cobalamin F deficiency |
| (disease) | [EntityWithAccessionedSequence:3315419] LMBRD1 L352fs*19 [lysosomal membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by methylmalonic aciduria and homocystinuria type cblF (3359452)
