Associated Papers
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
Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.
Arslan N et al.
Frontiers in Pediatrics, 2023
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.
McGovern MM et al.
Orphanet Journal of Rare Diseases, 2021
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
McGovern MM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.
Rhein C et al.
International Journal of Molecular Sciences, 2015
The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity.
Rhein C et al.
Jimd Reports, 2013
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