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Paper Details

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
J Inherit Metab Dis
2
2023
ALG1, ALG8, ATP6AP1, ATP6AP1-, ALG1-, ALG8-, and PMM2-CDG, CDG, Congenital disorders of glycosylation, N-(3,5,6-trihydroxy-cholan-24-oyl) glycine, N-palmitoyl-O-phosphocholineserine, NPC, Niemann-Pick type C (NPC) disease, PMM2, PPCS, bile acid, children, cholestatic liver failure, congenital disorders of glycosylation, inborn errors of metabolism, infant, liver disease, oxysterol, oxysterols, plasma
Author NameAffiliation
Lynne A WolfeNational Institutes of Health
Lynne A WolfeNational Institutes of Health
Bobby G NgSanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute
Hudson H FreezeSanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute
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Release 1.2