Associated Papers
A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.
Xue Y et al.
Molecular Genetics & Genomic Medicine, 2023
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.
Öncül Ü et al.
Molecular Syndromology, 2022
ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
González-Domínguez CA et al.
Frontiers in Genetics, 2021
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.
de la Morena-Barrio ME et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG et al.
Human Mutation, 2016
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
Zhang W et al.
Clinical Chemistry, 2016
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
Dupré T et al.
Journal of Medical Genetics, 2010
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