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…
Rohit Hirachan
Variable clinical phenotypes of alpha‐methylacyl‐CoA racemase deficiency: Report of four cases and review of the literature
Abstract Alpha‐methylacyl‐CoA‐racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and…