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In NPC1-deficient mice and several phase 1/2a trials, both intrathecal and intravenous administration [7,8,9] of HPCD reduced cholesterol accumulation with beneficial effects for neurological symptoms, and improved liver dysfunction [7, 70]

In the body, glutathione exists in two main states: reduced (GSH) and oxidized (GSSG)

P-glycoprotein (P-gp or ABCB1), a member of a large family of ATP Binding Cassette (ABC) transporters, mediates the active efflux of anticancer drugs [4]

It isnt surprising, really, since BPC is endogenously found in gastric juice and likely serves a natural protective function against mucosal injury

Pediatric patients and those with delayed presentations of clinical cholestasis of undetermined etiology, or a family history of cholestatic disease, should be considered for NGS or WES genetic testing