Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders.

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第一作者： Irene,De Biase

第一单位： Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA. Electronic address: irene.de-biase@aruplab.com.

作者： Irene,De Biase ^[1] ; Tatiana,Yuzyuk ^[2] ; Wei,Cui ^[3] ; Lauren M,Zuromski ^[4] ; Ann B,Moser ^[5] ; Nancy E,Braverman ^[6]

作者单位： Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA. Electronic address: irene.de-biase@aruplab.com. ^[1] Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA. ^[2] Child Health and Human Development Program, Research Institute of the McGill University, Montreal, Quebec, Canada. ^[3] Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA. ^[4] Hugo W Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA. ^[5] Child Health and Human Development Program, Research Institute of the McGill University, Montreal, Quebec, Canada; Department of Human Genetics and Pediatrics, McGill University, Montreal, Quebec, Canada. ^[6]

关键词 Peroxisome biogenesis defects Plasmalogen Rhizomelic chondrodysplasia punctata