⌘+K

Pulse Explore Clubs Researchers Journals

Home Clubs Explore

October 10, 2024

[Analysis of ACADVL gene variant in a Chinese pedigree affected with Very-long-chain acl-CoA dehydrogenase deficiency].

Haofeng Ning Yuqiong Chai Jieqiong Wang Yanan Wang

View Full Paper

Ask AI

Bookmark

Share

Abstract

To carry out genetic testing on a child diagnosed with Very-long-chain acyl-CoA dehydrogenase deficiency (VLADD) in order to provide a basis for genetic counseling and prenatal diagnosis for his family.

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Ning et al. (2024) studied this question.

synapsesocial.com/papers/68e55b65e2b3180350ef91e1 https://doi.org/10.3760/cma.j.cn511374-20210525-00441

View Full Paper

Ask AI

Bookmark

Share

Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families2024 · 5 citations
2Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase DeficiencyOriginal Research · 2026
3The development of the ACADVL scanning assay using a two-step PCR and high resolution melting analysisother · 2014
4Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review2024 · 7 citations
5Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β‐Oxidation Disorders: Novel Variants in the <scp><i>ACADM</i></scp>, <scp><i>ACADVL</i></scp> and <scp><i>SLC22A5</i></scp> Genes2025