Associated Papers
Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan.
Lin HH et al.
Molecular Genetics & Genomic Medicine, 2026
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.
Sako S et al.
Human Genome Variation, 2024
38866761 (PubMed )
Supplement: 41439_2024_282_MOESM2_ESM.xlsx › Supp_Table_2
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R et al.
Hereditas, 2023
36907956 (PubMed )
Supplement: 41065_2023_272_MOESM1_ESM.xlsx › Sheet1
Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan.
Pan YW et al.
Molecular Genetics and Metabolism Reports, 2023
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.
Hu J et al.
Human Mutation, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
[Polymorphisms in Sleep and Cognitive Function Related Genes are Associated with Vehicle Crash History in Shift Working Bus Drivers].
Dorokhov VB et al.
Zhurnal Vysshei Nervnoi Deiatelnosti Imeni I P Pavlova, 2017
Crystal structure of mammalian acid sphingomyelinase.
Gorelik A et al.
Nature Communications, 2016
27435900 (PubMed )
Supplement: ncomms12196-s1.pdf
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S et al.
Human Mutation, 2016
Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease.
Foo JN et al.
Neurobiology of Aging, 2013
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.
Zhang H et al.
Orphanet Journal of Rare Diseases, 2013
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