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
Evaluation of the Genetic Background of Patients with Niemann-Pick Disease.
Alipouran F et al.
Reports of Biochemistry & Molecular Biology, 2023
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.
Oliva P et al.
Molecular Genetics and Metabolism, 2023
Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients.
Cheema HA et al.
Pakistan Journal of Medical Sciences, 0
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