Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis

Authors: Irene Degrassi, Chiara Amoruso, Giuseppe Giordano, Marina Del Puppo, Andrea Mignarri, Maria Teresa Dotti, Mauro Naturale, Gabriella Nebbia

Source: Frontiers in Pediatrics, Vol 8 (2020)

Subject Terms: inborn errors of bile acid metabolism, cerebrotendinous xanthomatosis, neonatal cholestasis, chenodeoxycholic acid, CYP27A1 gene, cholestanol, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2020.00382/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/2c64eb125fba4cfd8818d3f403fd2446

Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene

Authors: Grazia Bossi, Giuseppe Giordano, Gaetana Anna Rispoli, Giuseppe Maggiore, Mauro Naturale, Daniela Marchetti, Maria Iascone

Source: Pediatric Reports, Vol 9, Iss 3 (2017)

Subject Terms: genetic cholestasis, cholic acid, Medicine, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.pagepress.org/journals/index.php/pr/article/view/7266; https://doaj.org/toc/2036-749X; https://doaj.org/toc/2036-7503

Access URL: https://doaj.org/article/d507e7c3570c4ba2b5fa25a92937ab8c