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The constitutive activation of ER stress pathways might contribute to organ pathology and metabolic dysfunction in peroxisomaldisorder patients.
2
Increased labeling of VLCFA and ULCFA is observed in cells from patients with peroxisomaldisorders.
3
We present a rare case of peroxisomal acyl-CoA oxidase deficiency that was not detected by the common metabolic screening program for peroxisomaldisorders.