Associated Papers
Biosynthetic and genetic pathways related to sialic acid metabolism.
Huang S et al.
The Journal of Biological Chemistry, 2026
The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.
Fadda A et al.
International Journal of Molecular Sciences, 2025
40565278 (PubMed )
Supplement: ijms-26-05815-s001.zip › Table_S1._Clinical_and_genetic_data_and_HLA_typing.xlsx › Genetic_data
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
den Hollander B et al.
Journal of Inherited Metabolic Disease, 2023
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
den Hollander B et al.
Frontiers in Neurology, 2021
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes.
Graham Linck EJ et al.
Npj Genomic Medicine, 2020
32637154 (PubMed )
Supplement: 41525_2020_132_MOESM1_ESM.pdf
NANS-mediated synthesis of sialic acid is required for brain and skeletal development.
van Karnebeek CD et al.
Nature Genetics, 2016
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