Unexplained Splenomegaly As a Diagnostic Marker for a Rare but Severe Disease with an Innovative and Highly Effective New Treatment Option: A Case Report
MOLECULAR GENETICS AND METABOLISM REPORTS（2024）
Key words
Acid sphingomyelinase deficiency,Niemann pick Type A/B,Niemann Pick Type B,Gaucher disease,Lysosomal storage disorders,Biomarkers,Therapy,Olipudase alfa
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