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Niemann-Pick type C is an autosomal-recessive, neurovisceral storage disorder that results from defective cholesterol esterification. Cholesterol-lowering agents have been demonstrated to decrease hepatic lipids in Niemann-Pick type C patients. The…
Congenital disorders of glycosylation, formerly called carbohydrate-deficient glycoprotein syndrome, may present in infancy with slowly progressive neurologic deficits including cognitive impairment, ataxia, pigmentary retinal degeneration, and…
