Associated Papers
When ganglioside pathways go awry: congenital disorders and experimental insights.
Inamori KI et al.
Journal of Human Genetics, 2025
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.
Mu D et al.
Orphanet Journal of Rare Diseases, 2024
Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants.
Watanabe S et al.
Brain & Development, 2023
Ganglioside GM3 Synthase Deficiency in Mouse Models and Human Patients.
Inamori KI et al.
International Journal of Molecular Sciences, 2022
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Delanne J et al.
Molecular Genetics and Metabolism Reports, 2021
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