Congenital disorders of glycosylation (CDG) are a large family of genetic diseases resulting
from defects in the synthesis of glycans and in the attachment of glycans to other …

Defects in the biosynthesis of the oligosaccharide precursor for N‐glycosylation lead to
decreased occupancy of glycosylation sites and thereby to diseases known as congenital …

Purpose: Congenital disorders of glycosylation are a heterogeneous group of disorders
caused by deficient glycosylation, primarily affecting the N-linked pathway. It is estimated …

We describe two unreported types of congenital disorders of glycosylation (CDG) which are
caused by mutations in different isoforms of the catalytic subunit of the …

Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases
comprising more than 85 known distinct disorders. They show a great phenotypic variability …

N-glycan analyses may serve uncovering disease-associated biomarkers, as well as for
profiling distinctive changes supporting diagnosis of genetic disorders of glycan …

Many human disorders of glycosylation pathways have now been identified; they include
defects in synthetic pathways for N-linked oligosaccharides, O-linked oligosaccharides …

Context: Inborn errors in protein glycosylation, such as the congenital disorders of
glycosylation (CDGs), generate multifaceted syndromes that impair many organ systems …

In this report, we describe a brother and sister who presented at birth with short‐limb skeletal
dysplasia, polyhydramnios, prematurity, and generalized edema. Dysmorphic features …

The congenital disorders of N-glycosylation (CDG), a steadily increasing group of multi-
systemic disorders, have severe clinical implications in infancy and early childhood. The …