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
Curated incidence of lysosomal storage diseases from the Taiwan Biobank.
Tsai MM et al.
Npj Genomic Medicine, 2023
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
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S et al.
Human Mutation, 2016
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