Associated Papers
Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts.
Budhraja R et al.
Proteomics, 2024
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
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG et al.
Human Mutation, 2016
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
Kane MS et al.
American Journal of Human Genetics, 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
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Jones MA et al.
Molecular Genetics and Metabolism, 0
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