Associated Papers
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.
Sabir MS et al.
Molecular Genetics and Metabolism Reports, 2025
41280660 (PubMed )
Supplement: mmc3.pdf
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.
Sabir MS et al.
Jimd Reports, 2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.
Shinawi M et al.
Molecular Genetics and Metabolism, 2025
Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.
Robichaud PP et al.
Bmc Medical Genomics, 2022
35488281 (PubMed )
Supplement: 12920_2022_1249_MOESM1_ESM.xlsx › Supplemental_Table_3
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