A Novel Disease with Deficiency of Mitochondrial Very-Long-Chain Acyl-CoA Dehydrogenase
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Cited by 143 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families;Frontiers in Genetics;2024-08-12
2. Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan;International Journal of Neonatal Screening;2024-02-20
3. Four novel variants identified in genes causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families;2023-10-06
4. Exercise testing and prescription in patients with inborn errors of muscle energy metabolism;Journal of Inherited Metabolic Disease;2023-07-02
5. 妊娠悪阻を契機に診断に至った極長鎖アシルCoA脱水素酵素欠損症の1例;Rinsho Shinkeigaku;2023
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