Associated Papers
Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience.
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Journal of Inherited Metabolic Disease, 2024
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
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32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › SMPD1
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
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Human Mutation, 2016
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