Article
Types A and B Niemann-Pick disease.
Molecular genetics and metabolism - 1 Jan 2000
Schuchman Edward H, Desnick Robert J
Abstract excerpt
The eponym Niemann-Pick disease (NPD) refers to a group of patients who present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Due to the pioneering work of Roscoe Brady and co-workers, we now know that there are two distinct metabolic...
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