Associated Papers
Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants.
Watanabe S et al.
Brain & Development, 2023
Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome.
Abdulkareem AA et al.
Genes, 2023
Ganglioside GM3 Synthase Deficiency in Mouse Models and Human Patients.
Inamori KI et al.
International Journal of Molecular Sciences, 2022
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