Irene Degrassi Chiara Amoruso Giuseppe Giordano Marina Del Puppo Andrea Mignarri Maria Teresa Dotti Mauro Naturale Gabriella Nebbia
10.3389/fped.2020.00382
Front Pediatr
2020 Jul 16;8:382.
cyp27a1 gene cerebrotendinous xanthomatosis chenodeoxycholic acid cholestanol inborn errors of bile acid metabolism neonatal cholestasis
CC BY
https://pubmed.ncbi.nlm.nih.gov/32766184/
Case Reports
PMC7381104
32766184
Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis
2020