Associated Papers
Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.
Clayton PT et al.
Journal of Inherited Metabolic Disease, 2025
Beneficial effect of ursodeoxycholic acid in patients with acyl-CoA oxidase 2 (ACOX2) deficiency-associated hypertransaminasemia.
Alonso-Peña M et al.
Hepatology (baltimore, Md.), 2022
Acox2 is a regulator of lysine crotonylation that mediates hepatic metabolic homeostasis in mice.
Zhang Y et al.
Cell Death & Disease, 2022
ACOX2 deficiency in primary malignant cardiac tumors.
Zhou X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia.
Monte MJ et al.
Journal of Hepatology, 2017
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.
Vilarinho S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
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