Abstract Bile acid synthesis defects (BASDs) comprise a group of rare, often severe, metabolic disorders. Bile acid replacement therapy decreases…
Abstract Background: Bile acid synthesis defects (BASDs) can be severely disabling involving the liver and nervous system, potentially due to…
Abstract Background: Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene.…
Abstract Introduction: Zellweger spectrum disorders (ZSDs) are caused by an impairment of peroxisome biogenesis, resulting in multiple metabolic abnormalities. This…
Abstract Introduction: Zellweger spectrum disorders (ZSDs) are characterized by a failure in peroxisome formation, caused by autosomal recessive mutations in…
Abstract Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes.…
Abstract Introduction: We describe the natural history of patients with a Zellweger spectrum disorder (ZSD) surviving into adulthood. Methods: Retrospective…