Dr Irene Chang and Dr An Dang Do explain how an infant presenting with cholestasis and liver disease kept them guessing, and how the abnormal biochemical findings gave them new insights into other conditions.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation
An N. Dang Do, et al
https://doi.org/10.1002/jimd.12595
