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Article

Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.

Journal of Zhejiang University. Science. B - 1 Jan 2000

Chen Ting, Tong Fan, Wu Xiao-Yu, Zhu Ling, Yi Qiu-Zi, Zheng Jing, Yang Ru-Lai, Zhao Zheng-Yan, Cang Xiao-Hui, Shu Qiang, Jiang Ping-Ping

Abstract excerpt

The pathogenesis of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is highly heterogeneous and still unclear. Additional novel variants have been recently detected in the population. The molecular and cellular effects of these previously unreported variants are still poorly understood and require further characterization. To address this problem, we have evaluated the various functions and biochemical...

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Identifiers

PMID: 33150772
DOI: 10.1631/jzus.B2000339
PMCID: PMC7691688

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Source receipt: pubmed, retrieved 7 Sept 2026.

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