日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant

ACADVL深度测序案例研究：超越常见的c.848T>C致病变异

期刊:Genes
影响因子:2.8
doi:10.3390/genes16050538
Baldo, Francesco; Zupin, Luisa; Magnolato, Andrea; Capaci, Valeria; Bonati, Maria Teresa
ACADV
发表日期：2025
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Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant

极长链酰基辅酶A脱氢酶缺乏症的基因分析：一例新型ACADVL变异体的病例报告

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2024.101184
Zhou, Wei; Li, Huizhong; Yang, Li
ACADV
发表日期：2025
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Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Patient.

对来自极长链酰基辅酶A脱氢酶缺乏症患者的ACADVL基因中意义未明的变异体进行表征。

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70120
ACADV
发表日期：2025
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Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families

在四个互不相关的中国家族中，发现了导致极长链酰基辅酶A脱氢酶缺乏症的ACADVL基因的四个新变异。

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1433160
Li, Lulu; Tang, Yue; Zhao, Jinqi; Gong, Lifei; Yang, Nan; Wang, Shunan; Yang, Haihe; Kong, Yuanyuan
ACADV
发表日期：2024
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NFYA promotes malignant behavior of triple-negative breast cancer in mice through the regulation of lipid metabolism

NFYA通过调节脂质代谢促进小鼠三阴性乳腺癌的恶性行为。

期刊:Communications Biology
影响因子:5.2
doi:10.1038/s42003-023-04987-9
Nobuhiro Okada ，Chihiro Ueki ，Masahiro Shimazaki ，Goki Tsujimoto ，Susumu Kohno ，Hayato Muranaka ，Kiyotsugu Yoshikawa ，Chiaki Takahashi
代谢
乳腺癌
肿瘤
肿瘤免疫
发表日期：2023
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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation

ACMG/AMP 指南中关于 ACADVL 变异解读的规范

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2023.107668
Flowers, May; Dickson, Alexa; Miller, Marcus J; Spector, Elaine; Enns, Gregory Mark; Baudet, Heather; Pasquali, Marzia; Racacho, Lemuel; Sadre-Bazzaz, Kianoush; Wen, Ting; Fogarty, Melissa; Fernandez, Raquel; Weaver, Meredith A; Feigenbaum, Annette; Graham, Brett H; Mao, Rong
ACADV
发表日期：2023
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Effects of Exercise Training on Mitochondrial Fatty Acid β-Oxidation in the Kidneys of Dahl Salt-Sensitive Rats

运动训练对达尔盐敏感大鼠肾脏线粒体脂肪酸β-氧化的影响

期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms242115601
Asako Namai-Takahashi, Junta Takahashi, Yoshiko Ogawa, Akihiro Sakuyama, Lusi Xu, Takahiro Miura, Masahiro Kohzuki, Osamu Ito
信号转导
FCM
IF
IHC-P
WB
ACADV
发表日期：2023
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Identification of Genetic Effects of ACADVL and IRF6 Genes with Milk Production Traits of Holstein Cattle in China

中国荷斯坦奶牛产奶性状与ACADVL和IRF6基因遗传效应的鉴定

期刊:Genes
影响因子:2.8
doi:10.3390/genes13122393
Peng, Peng; Liu, Yanan; Zheng, Weijie; Han, Bo; Wang, Kun; Sun, Dongxiao
ACADV
发表日期：2022
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Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations

成人发病型复发性横纹肌溶解症伴极长链酰基辅酶A脱氢酶缺乏症，由复合杂合ACADVL突变引起

期刊:Internal Medicine
影响因子:1.1
doi:10.2169/internalmedicine.4604-20
Fuseya, Yasuhiro; Sakurai, Takeyo; Miyahara, Jun-Ichi; Sato, Kei; Kaji, Seiji; Saito, Yoshihiko; Takahashi, Makio; Nishino, Ichizo; Fukuda, Tokiko; Sugie, Hideo; Yamashita, Hirofumi
ACADV
发表日期：2020
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Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

美国新生儿筛查极长链酰基辅酶A脱氢酶（VLCAD）缺乏症阳性个体中复发性ACADVL分子检测结果

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2015.08.011
Miller, Marcus J; Burrage, Lindsay C; Gibson, James B; Strenk, Meghan E; Lose, Edward J; Bick, David P; Elsea, Sarah H; Sutton, V Reid; Sun, Qin; Graham, Brett H; Craigen, William J; Zhang, Victor Wei; Wong, Lee-Jun C
ACADV
发表日期：2015
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