Article

SMPD1 Expression Profile and Mutation Landscape Help Decipher Genotype–Phenotype Association and Precision Diagnosis for Acid Sphingomyelinase Deficiency

2022-11-22

Abstract excerpt

<title>Abstract</title> <p>Background Acid sphingomyelinase deficiency (ASMD) disorder, also known as Niemann–Pick disease (NPD) is a rare genetic disease caused by mutations in <italic>SMPD1</italic> gene, which encodes sphingomyelin phosphodiesterase (ASM). Except for liver and spleen enlargement and lung disease, two subtypes (Type A and B) of NDP have different onset times, survival times, ASM activities, an...

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Literature Corpus work: 86818028-41db-53ae-9ac9-c1ff01c66171
DOI: 10.21203/rs.3.rs-2185951/v1

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