Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.
D000074183:ATPases Associated with Diverse Cellular Activities; D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D001284:Atrophy; D002552:Cerebral Ventricles / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D020125:Mutation, Missense; D009186:Myelin Sheath / Q000473:pathology; D019579:Neocortex / Q000473:pathology*; D010641:Phenotype; D016019:Survival Analysis; D015211:Zellweger Syndrome / Q000145:classification / Q000235:genetics / Q000401:mortality / Q000473:pathology*
D008565:Membrane Proteins; D000074183:ATPases Associated with Diverse Cellular Activities; C111808:PEX1 protein, human