Carla E. M. Hollak

July 11, 2025

Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects

Abstract Bile acid synthesis defects (BASDs) comprise a group of rare, often severe, metabolic disorders. Bile acid replacement therapy decreases…

December 19, 2024

The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review

Abstract Background: Bile acid synthesis defects (BASDs) can be severely disabling involving the liver and nervous system, potentially due to…

September 23, 2024

Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency

Abstract Background: Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene.…