Associated Papers
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population.
Kart PO et al.
Neurogenetics, 2025
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation.
Sakson R et al.
International Journal of Molecular Sciences, 2024
Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.
Mulkey SB et al.
Pediatric Neurology, 2019
ALG11-CDG syndrome: Expanding the phenotype.
Haanpää MK et al.
American Journal of Medical Genetics. Part A, 2019
ALG11-CDG: Three novel mutations and further characterization of the phenotype.
Regal L et al.
Molecular Genetics and Metabolism Reports, 2015
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
Thiel C et al.
Human Mutation, 2012
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