Associated Papers
How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears.
Girard S et al.
Hemasphere, 2024
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
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › SMPD1
[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].
Lidove O et al.
La Revue De Medecine Interne, 2017
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