Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral SclerosisJanel O. Johnson, Claudia Fallini, Simon Topp et al.|JAMA Neurology|2021Cited by 85
Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage DisorderMarya S. Sabir, May Christine V. Malicdan, David R. Adams et al.|Rare|2025Cited by 2
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage DisorderMarya S. Sabir, May Christine V. Malicdan, Laura Pollard et al.|JIMD Reports|2025Cited by 0
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorderMarya S. Sabir, May Christine V. Malicdan, Kostantin Dobrenis et al.|Molecular Genetics and Metabolism Reports|2025Cited by 0