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Elevated Oxysterol and N-palmitoyl-O-phosphocholineserine Levels in Congenital Disorders of Glycosylation

An N. Dang Do,Irene J. Chang, Xutian Jiang,Lynne A. Wolfe,Bobby G. Ng,Christina Lam,Rhonda E. Schnur,Katrina Allis,Hana Hansikova,Nina Ondruskova,Shawn D. O'Connor,Amarilis Sanchez-Valle,Arve Vollo,Raymond Y. Wang,Zoe Wolfenson,John Perreault,Daniel S. Ory,Hudson H. Freeze,J. Lawrence Merritt,Forbes D. Porter

JOURNAL OF INHERITED METABOLIC DISEASE（2023）

Cited 3|Views38
Key words
ATP6AP1,bile acids,congenital disorders of glycosylation (CDG),Niemann-pick type C (NPC),N-palmitoyl-O-phosphocholineserine (PPCS),oxysterols
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