Associated Papers
Biosynthetic and genetic pathways related to sialic acid metabolism.
Huang S et al.
The Journal of Biological Chemistry, 2026
Molecular genetics and therapeutic development for GNE myopathy.
Yoshioka W et al.
Journal of Human Genetics, 2025
Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy.
Tsuda S et al.
Annals of Hematology, 2024
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Bottega R et al.
Haematologica, 2022
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