Abstract:Acid sphingomyelinase deficiency (ASMD) – also known as Niemann–Pick (NP) disease – is a rare, autosomal recessive disorder which is characterized by deficiency of the lysosomal enzyme acid sphingomyelinase (ASM), thus resulting in excessive storage of lipids in organs (i.e. spleen, liver, lung, bone marrow, lymph nodes, and vascular system). Literature provided few cases of moderate–to–severe valvular heart disease due to ASMD, mostly in adulthood. We reported the case of a patient with B–subtype NP disease w… Show more
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.