Associated Papers
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report.
Kamalova A et al.
Frontiers in Pediatrics, 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
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.
Hu J et al.
Human Mutation, 2021
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
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