[HTML][HTML] A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

MF Wangler, L Hubert, TR Donti, MJ Ventura… - Genetics in …, 2018 - Elsevier
Abstract Purpose Peroxisome biogenesis disorders–Zellweger spectrum disorders (PBD-
ZSD) are metabolic diseases with multisystem manifestations. Individuals with PBD-ZSD
exhibit impaired peroxisomal biochemical functions and have abnormal levels of
peroxisomal metabolites, but the broader metabolic impact of peroxisomal dysfunction and
the utility of metabolomic methods is unknown. Methods We studied 19 individuals with
clinically and molecularly characterized PBD-ZSD. We performed both quantitative …