Article

Genetic analysis of two heterozygous SMPD1 variants in a pediatric Niemann-Pick disease patient

2025-02-18

Abstract excerpt

<title>Abstract</title> <p>Background Niemann-Pick disease (NPD), also known as acid sphingomyelinase deficiency, represents a group of rare genetic disorders first described in 1914. <italic>SMPD1</italic> is a crucial gene in this disease, which encodes the enzyme sphingomyelinase essential for the breakdown of sphingomyelin, a component of cell membranes. Mutations in the <italic>SMPD1</italic> gene disrupt t...

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Literature Corpus work: bf4c64b9-9feb-5727-9532-87c46ddcdcb8
DOI: 10.21203/rs.3.rs-6003891/v1

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