ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.

TitleACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.
Publication TypeJournal Article
AuthorsVilarinho, S, Sari, S, Mazzacuva, F, Bilguvar, K, Esendagli-Yilmaz, G, Jain, D, Akyol, G, Dalgiç, B, Günel, M, Clayton, PT, Lifton, RP
PubMed ID27647924
PubMed Central IDPMC5056113
Grant ListP30 DK034989 / DK / NIDDK NIH HHS / United States
U54 HG006504 / HG / NHGRI NIH HHS / United States
UL1 TR001863 / TR / NCATS NIH HHS / United States