Publications
Export 2 results:
Author Title [ Year
] Filters: Author is Vilarinho, Sílvia and Keyword is Infant, Newborn [Clear All Filters]
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proc Natl Acad Sci U S A 113, 11289-11293 (2016).
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. J Hepatol 61, 1056-63 (2014).
