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PedAM

Pediatric Disease Annotations & Medicines




Disease ck syndrome
Phenotype C0027765|neurological disease
Sentences 1
PubMedID- 20466796 In addition to genetically defined defects in cholesterol synthesis, which will be covered in another review in this thematic series, defects in cholesterol metabolism (cerebrotendinous xanthomatosis) and intracellular transport (niemann pick syndrome) lead to neurological disease.

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