Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis
Abstract Many inborn errors of metabolism affect pathways involved in the synthesis of a metabolite that has an important biochemical…
bile acid synthesis disorders
Autoantibody Positivity in Two Bahraini Siblings With a Novel Alpha-Methylacyl-CoA Racemase Mutation
Abstract Bile acid synthesis disorders (BASD) are a group of rare autosomal recessive disorders. Of the nine different versions, BASD…