Associated Papers
Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience.
Hickey RE et al.
Journal of Inherited Metabolic Disease, 2024
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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