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

Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of β-oxidation

先天性 β-氧化缺陷患者外周血细胞线粒体代谢发生改变

Rasmus Stenlid, David Olsson, Jing Cen, Hannes Manell, Charlotte Haglind, Azazul Islam Chowdhury, Peter Bergsten, Anna Nordenström, Maria Halldin

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function

腺苷激酶缺乏会扰乱蛋氨酸循环,导致高蛋氨酸血症、脑病和肝功能异常

Magnus K Bjursell, Henk J Blom, Jordi Asin Cayuela, Martin L Engvall, Nicole Lesko, Shanti Balasubramaniam, Göran Brandberg, Maria Halldin, Maria Falkenberg, Cornelis Jakobs, Desiree Smith, Eduard Struys, Ulrika von Döbeln, Claes M Gustafsson, Joakim Lundeberg, Anna Wedell