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.…
Bwee Tien Poll-The
Coagulopathy in Zellweger spectrum disorders: a role for vitamin K
Abstract Introduction: Zellweger spectrum disorders (ZSDs) are caused by an impairment of peroxisome biogenesis, resulting in multiple metabolic abnormalities. This…
Cholic acid therapy in Zellweger spectrum disorders
Abstract Introduction: Zellweger spectrum disorders (ZSDs) are characterized by a failure in peroxisome formation, caused by autosomal recessive mutations in…
Zellweger spectrum disorders: clinical overview and management approach
Abstract Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes.…
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood
Abstract Introduction: We describe the natural history of patients with a Zellweger spectrum disorder (ZSD) surviving into adulthood. Methods: Retrospective…