. . . . . . . . . . . . "[Niemann-Pick type C (NPC) is characterized by unique abnormalities of intracellular transport of exogenous cholesterol with sequestration of unesterified cholesterol in lysosomes, while Niemann-Pick types A and B are acid sphingomyelinase deficiencies resulting from mutations in the gene coding for lysosomal sphingomyelinase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:36:15+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .