Congenital disorders of glycosylation are a genetically and clinically heterogeneous group
of> 130 diseases caused by defects in various steps along glycan modification pathways …

Congenital disorders of glycosylation (CDG) are genetic diseases due to defective
glycosylation of proteins and lipids. The authors present an update on these disorders …

In eukaryotic protein N-glycosylation, a series of glycosyltransferases catalyse the
biosynthesis of a dolichylpyrophosphate-linked oligosaccharide before its transfer onto …

Abstract Introduction Alpha‐1, 3‐glucosyltransferase congenital disorder of glycosylation
(ALG6‐CDG) is a congenital disorder of glycosylation. The original patients were described …

Background and aim Congenital disorders of glycosylation (CDG) are a large
heterogeneous group of about 170 rare inherited metabolic disorders due to defective …

Objective To define phenotypic groups and identify predictors of disease severity in patients
with phosphoglucomutase-1 deficiency (PGM1-CDG). Study design We evaluated 27 …

1.5 Mutational spectrum Twenty-three variants have been reported, including 11 missense
variants, 1 nonsense variant, 5 deletion variants, 4 splicing variants, and 1 duplication …

Background and purpose Congenital disorders of glycosylation (CDG) represent an
increasing number of rare inherited metabolic diseases associated with abnormal glycan …

Aim. Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases,
characterized by impaired glycosylation. Multisystemic involvement is common and …

Modern advances in disease genetics have uncovered numerous modifier genes that play a
role in the severity of disease expression. One such class of genetic conditions is known as …