Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes November 18, 2021
Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study July 5, 2021
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment June 22, 2021
