Ontology highlight
ABSTRACT:
SUBMITTER: FitzPatrick DR
PROVIDER: S-EPMC1050768 | biostudies-other | 1996 Oct
REPOSITORIES: biostudies-other
Journal of medical genetics 19961001 10
Until recently, the peroxisome was considered a "reactor chamber" for H2O2 producing oxidases, and it is now recognised as a versatile organelle performing complex catabolic and biosynthetic roles in the cell. Zellweger syndrome (ZS), the paradigm of human peroxisomal disorders, is characterised by neonatal hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, senorineural deafness, retinal dysfunction, and facial dysmorphism. It is now clear that ZS is at the severe end of a p ...[more]