Associated Papers
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R et al.
Hereditas, 2023
36907956 (PubMed )
Supplement: 41065_2023_272_MOESM1_ESM.xlsx › Sheet1
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.
McGovern MM et al.
Orphanet Journal of Rare Diseases, 2021
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.
Hashemian S et al.
Iranian Journal of Child Neurology, 2019
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S et al.
Human Mutation, 2016
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