Article
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Hereditas - 13 Mar 2023
Wang Ruisong, Qin Ziyi, Huang Long, Luo Huiling, Peng Han, Zhou Xinyu, Zhao Zhixiang, Liu Mingyao, Yang Pinhong, Shi Tieliu
Abstract excerpt
BACKGROUND: Acid sphingomyelinase deficiency (ASMD) disorder, also known as Niemann-Pick disease (NPD) is a rare genetic disease caused by mutations in SMPD1 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, and neurological abnormalities. To...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.