Lactate Dehydrogenase B Deficiency (LDHBD)

Alias:
Glycogen Storage Disease Due to Lactate Dehydrogenase H-Subunit Deficiency
Glycogenosis Due to Lactate Dehydrogenase H-Subunit Deficiency
Gsd Due to Lactate Dehydrogenase H-Subunit Deficiency
Ldh-H Subunit Deficiency
Ldhbd
Lactate Dehydrogenase Deficiency Type B
Lactate Dehydrogenase-B 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
乳酸脱氢酶B缺乏症,又称乳酸脱氢酶h亚单位缺乏引起的糖原贮积病,与乳酸脱氢酶缺乏引起的糖原贮积病和乳酸脱氢酶缺乏症有关。与乳酸脱氢酶B缺乏症相关的重要基因是LDHB(乳酸脱氢酶B)。相关表型是乳酸脱氢酶b水平降低。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
成年期
--
1
5
8

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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