_:vb50944167 . _:vb50944167 . _:vb50944167 . _:vb50944167 . _:vb50944167 "url:https://www.ncbi.nlm.nih.gov/pubmed/27647924"^^ . _:vb50944167 . _:vb50944167 "A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14."^^ . _:vb50944167 "url:https://www.ncbi.nlm.nih.gov/pubmed/27884763"^^ .