Under the same conditions, lignoceric acid beta-oxidation was impaired in the above three peroxisomaldisease states.
2
Impairment of this function as occurs in peroxisomaldisease results in the accumulation of VLCFA and ULCFA.
3
The results reported suggest that various peroxisomaldisease states can be identified based on DHAP-AT and DHAP-synthase activities in skin fibroblasts of patients.
1
Increased labeling of VLCFA and ULCFA is observed in cells from patients with peroxisomaldisorders.
2
We present a rare case of peroxisomal acyl-CoA oxidase deficiency that was not detected by the common metabolic screening program for peroxisomaldisorders.
Uso de peroxisomal disorder em inglês
1
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.