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Cholbam® and Zellweger spectrum disorders: treatment implementation and management

14 Sept 2021

Abstract excerpt

BACKGROUND: Zellweger spectrum disorders (ZSDs) are a rare, heterogenous group of autosomal recessively inherited disorders characterized by reduced peroxisomes numbers, impaired peroxisomal formation, and/or defective peroxisomal functioning. In the absence of functional peroxisomes, bile acid synthesis is disrupted, and multisystem disease ensues with abnormalities in the brain, liver, kidneys, muscle, eyes,...

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PMID: 34521419
DOI: 10.1186/s13023-021-01940-z

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