• 已选条件：
  • × Journal of Lipid Researc
  • × inborn errors of metabolism
 全选  【符合条件的数据共：3条】

1 Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment [期刊论文]

来源：Journal of Lipid Research , 2018

作者:Shani Ben Haroush;Limor Kalfon;Natalia Chasnyk;等

关键词:inborn errors of metabolism;storage diseases;...

使用许可:Unknown

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2 Human glucocerebrosidase mediates formation of xylosyl-cholesterol by β-xylosidase and transxylosidase reactions [期刊论文]

来源：Journal of Lipid Research , 2021

作者:Herman S. Overkleeft;Navraj Pannu;Roelof Ottenhoff;等

关键词:ceramides;cerebrosides;...

使用许可:Unknown

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3 Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis [期刊论文]

来源：Journal of Lipid Research , 62卷 , 2021

作者:Stefan Hauser;Lauren Griffiths;P. Barton Duell;等

关键词:bile acid metabolism;cholesterol metabolism;...

使用许可:Unknown

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