Vitamin B12-Unresponsive Methylmalonic Acidemia

Alias:
Methylmalonyl-Coenzyme a Mutase Deficiency
Vitamin B12-Unresponsive Methylmalonic Aciduria
Methylmalonyl-Coa Mutase Deficiency
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
维生素B12不反应性甲基丙二酸血症,也称为甲基丙二酰辅酶A突变酶缺乏症,与甲基丙二酰辅酶A突变酶缺乏和甲基丙二酸血症有关。附属组织包括胰腺和肾脏,相关表型为恶心和呕吐以及呼吸衰竭
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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Medical Symptom

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

Gene & Mutation

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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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