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Compared to younger-onset patients, individuals with the adolescent/adult onset more frequently develop psychiatric symptoms and cognitive impairment ( Oxysterols (cholestane-3, 5 and6-triol and 7-ketocholesterol are elevated inmost patients, but they can also be elevated in the deficiency of lysosomal acid lipase and in neonatal cholestasis in general

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Iron-sulfur cluster deficiency can be sensed by IRP2 and regulates iron homeostasis and sensitivity to ferroptosis independent of IRP1 and FBXL5

Choung YH, Kim SW, Tian C, et al