Nelson Textbook of Pediatrics 22nd Ed — Section 106.3. Niemann-Pick type C (NPC1, NPC2) — cholesterol trafficking defect, vertical supranuclear gaze palsy, neurodegeneration. Wolman disease (LIPA) — lysosomal acid lipase deficiency, adrenal calcification. Cerebrotendinous xanthomatosis (CYP27A1) — tendon xanthomas, cataracts, neurodegeneration.
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