Peroxisome biogenesis disorder

Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).

Also known as: PBD, ZSS, PBD-ZSD, peroxisomal biogenesis disorders, peroxisomal biogenesis disorders, Zellweger syndrome spectrum, peroxisome biogenesis disorder, peroxisome biogenesis disorder spectrum, peroxisome biogenesis disorder-Zellweger syndrome spectrum, peroxisome biogenesis disorders, Zellweger syndrome spectrum

16 clinical trials for this condition and its sub-types.