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Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy.
🥉 Relato de casoIdentification and characterization of a prokaryotic Mannosyl-oligosaccharide Glucosidase (MOGS) and establishment of a functional complementation assay for MOGS activity.
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.
🥉 Relato de casoMOGS-CDG: Quantitative analysis of the diagnostic Glc(3) Man tetrasaccharide and clinical spectrum of six new cases.
🥉 Relato de casoUpdated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.
🥉 Relato de caso