Associated Papers
Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.
Abuduxikuer K et al.
World Journal of Clinical Cases, 2022
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S et al.
Journal of Medical Genetics, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams.
Peiwei Zhao et al.
Neurogenetics, 2020
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.
Kim YM et al.
Journal of Human Genetics, 2018
The Lec23 Chinese hamster ovary mutant is a sensitive host for detecting mutations in alpha-glucosidase I that give rise to congenital disorder of glycosylation IIb (CDG IIb).
Hong Y et al.
The Journal of Biological Chemistry, 2004
Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb).
Völker C et al.
Glycobiology, 2002
Congenital disorders of glycosylation: the rapidly growing tip of the iceberg.
Jaeken J et al.
Current Opinion in Neurology, 2001
Congenital disorders involving defective N-glycosylation of proteins.
Schachter H
Cellular and Molecular Life Sciences : Cmls, 2001
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.
De Praeter CM et al.
American Journal of Human Genetics, 2000
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