SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency

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...

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Detalles Bibliográficos
Autores principales: Wang, Ruisong, Qin, Ziyi, Huang, Long, Luo, Huiling, Peng, Han, Zhou, Xinyu, Zhao, Zhixiang, Liu, Mingyao, Yang, Pinhong, Shi, Tieliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009935/
https://www.ncbi.nlm.nih.gov/pubmed/36907956
http://dx.doi.org/10.1186/s41065-023-00272-1

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