Associated Papers
Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.
Zhao P et al.
Orphanet Journal of Rare Diseases, 2025
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population.
Kart PO et al.
Neurogenetics, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable4
Identification of two novel variants in ALG11 causing congenital disorder of glycosylation.
Zhao P et al.
Seizure, 2024
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou D et al.
Brain : a Journal of Neurology, 2021
34145886 (PubMed )
Supplement: awab233_supplementary_data.pdf
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