Article

SMPD1 Expression Profile and Mutation Landscape Help Decipher Genotype–Phenotype Association and Precision Diagnosis for Niemann–Pick Disease Types A and B

2022-08-09

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Types A and B of the rare genetic disease Niemann–Pick disease (NPD) are caused by mutations in the <italic>SMPD1</italic> gene, which encodes sphingomyelin phosphodiesterase (ASM). Except for the liver and spleen enlargement and lung disease, the two subtypes have different onset times, survival times, ASM activities, and neurological abnormalities. To comprehe...

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Literature Corpus work: eeaea7a3-0b23-5d99-83b5-042ccd183fd4
DOI: 10.21203/rs.3.rs-1899568/v1

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