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Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Alias:
Methylmalonic Aciduria Due to Transcobalamin Receptor Defect
Methylmalonic Acidemia, Tcblr Type
Methylmalonic Acidemia, Tcb1r Type
Methylmalonic Acidemia, Tcbir Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Methylmalonic Acidemia Due to Transcobalamin Receptor Defect, also known as methylmalonic aciduria due to transcobalamin receptor defect, is related to methylmalonic aciduria, transient, due to transcobalamin receptor defect. An important gene associated with Methylmalonic Acidemia Due to Transcobalamin Receptor Defect is CD320 (CD320 Molecule).
Related ID：
MALACARDS：MTH069

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
6
2
MTH069

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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