The difference of variation types between late-onset multiple acyl-CoA dehydrogenase deficiency patients carrying biallelic and single heterozygous variations in ETFDH: a systematic review and meta-analysis

The difference of variation types between late-onset multiple acyl-CoA dehydrogenase deficiency patients carrying biallelic and single heterozygous variations in ETFDH: a systematic review and meta-analysis

Abstract Background Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disease chiefly caused by mutations in ETFDH gene. Mutations in the ETFDH gene lead to abnormal structure, impaired function, and increased degradation of ETFDH protein. However, it is not know...

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Bibliographic Details
Main Authors: Huiqiu Zhang, Jing Ma, Menghan Su, Junsen Zhao, Weisong Duan, Juan Wang, Dan Liu, Junhong Guo, Xueli Chang, Wei Zhang, Rongjuan Zhao
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Late-onset multiple acyl-CoA dehydrogenase deficiency
ETFDH
Single heterozygous variations
Variation types
Meta-analysis
Online Access:https://doi.org/10.1186/s13023-025-03845-7
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