Targeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy

doi: 10.1016/j.jgg.2021.10.003

• Shijing Wu ¹ , 
• Sin Man Lam ² , 
• Huajin Li ^3,4 , 
• Binhua Jiang ⁵ , 
• Zixi Sun ⁶ , 
• Tian Zhu ⁶ , 
• Xing Wei ⁶ , 
• Xuan Zou ⁶ , 
• Guanghou Shui ⁷ , 
• Ruifang Sui ⁸    

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  1. Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;

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  2. State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China;

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  3. Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;

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  4. Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350004, China;

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  5. LipidALL Technologies Company Limited, Changzhou, Jiangsu 213022, China;

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  6. Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China;

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  7. State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China;

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  8. Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China