Mol Genet Metab Rep

期刊全称Mol Genet Metab Rep
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期刊相关文献 (4)

Adiponectin overexpression improves metabolic abnormalities caused by acid ceramidase deficiency but does not prolong lifespan in a mouse model of Farber Disease

脂联素过表达可改善酸性神经酰胺酶缺乏引起的代谢异常，但并不能延长法伯病小鼠模型的寿命。

期刊:Mol Genet Metab Rep
影响因子:1.800
doi:10.1016/j.ymgmr.2024.101077
Marie K Norris ,Trevor S Tippetts ,Joseph L Wilkerson ,Rebekah J Nicholson ,J Alan Maschek ,Thierry Levade ,Jeffrey A Medin ,Scott A Summers ,William L Holland
发表日期：2024
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Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype

血红素加氧酶-1缺乏症新变异体的临床和分子分析：揭示其在炎症、血红素代谢和肺部表型中的作用

期刊:Mol Genet Metab Rep
影响因子:1.800
doi:10.1016/j.ymgmr.2023.101038
Lea-Sophie Berendes ，Petra Schulze Westhoff ，Helmut Wittkowski ，Anja Seelhöfer ，Georg Varga ，Thorsten Marquardt ，Julien H Park
发表日期：2023
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A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

一种与非典型中度迟发性LCHAD缺乏症相关的新型HADHA变异体

期刊:Mol Genet Metab Rep
影响因子:1.800
doi:10.1016/j.ymgmr.2022.100860.
Anne-Frédérique Dessein ,Eléonore Hebbar ,Joseph Vamecq ,Elodie Lebredonchel ,Aurore Devos ,Jamal Ghoumid ,Karine Mention ,Dries Dobbelaere ,Marie Joncquel Chevalier-Curt ,Monique Fontaine ,Sabine Defoort ,Vassily Smirnov ,Claire Douillard ,Claire-Marie Dhaenens
发表日期：2022
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Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders

婴儿猝死症的代谢性尸检及下一代测序：脂肪酸氧化障碍的死后诊断

期刊:Mol Genet Metab Rep
影响因子:1.800
doi:10.1016/j.ymgmr.2015.09.005.
Takuma Yamamoto ,Hiroyuki Mishima ,Hajime Mizukami ,Yuki Fukahori ,Takahiro Umehara ,Takehiko Murase ,Masamune Kobayashi ,Shinjiro Mori ,Tomonori Nagai ,Tatsushige Fukunaga ,Seiji Yamaguchi ,Koh-Ichiro Yoshiura ,Kazuya Ikematsu
发表日期：2015
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