Peroxisomal biogenesis disorders (PBDs)

Definition:

Peroxisomal biogenesis disorders (PBDs) is a heterogeneous autosomal recessive disorders. In PBDs, peroxisome assembly is impaired, leading to multiple peroxisome enzyme deficiencies, complex developmental sequelae and progressive disabilities.

References:

[1]. Braverman NE, et al. Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 2013;17(3):187-96. [Content Brief]

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