The glycome describes the complete repertoire of glycoconjugates composed of
carbohydrate chains, or glycans, that are covalently linked to lipid or protein molecules …

The survey summarizes in its first part the current status of knowledge on the Congenital
Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and …

The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

Congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic
disorders that result from abnormal protein or lipid glycosylation. They are often difficult to …

Congenital disorders of glycosylation (CDG) are a group of clinically and genetically
heterogeneous metabolic disorders. Over 150 CDG types have been described. Most CDG …

Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect
protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 …

ABSTRACT Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common
congenital disorder of glycosylation and affects over 1000 patients globally. There are no …

Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in
protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most …

Protein misfolding induced by missense mutations is the source of hundreds of
conformational diseases. The cell quality control may eliminate nascent misfolded proteins …

Despite advances in the identification and diagnosis of congenital disorders of glycosylation
(CDG), treatment options remain limited and are often constrained to symptomatic …