Glycomics aims to identify the structure and function of the glycome, the complete set of
oligosaccharides (glycans), produced in a given cell or organism, as well as to identify …

Background Congenital disorders of glycosylation (CDG) are inherited metabolic diseases
caused by defects in the genes important for the process of protein and lipid glycosylation …

Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of
rare metabolic diseases. With a clinical history that dates back over 40 years, it was the …

Gait speed often referred as the sixth vital sign is the most powerful biomarker of mobility.
While a clinical setting allows the estimation of gait speed under controlled conditions that …

Purpose We studied galactose supplementation in SLC35A2-congenital disorder of
glycosylation (SLC35A2-CDG), caused by monoallelic pathogenic variants in SLC35A2 …

Abstract Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects
glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it …

Abstract ATP6AP1‐CDG is an X‐linked disorder typically characterized by hepatopathy,
immunodeficiency, and an abnormal type II transferrin glycosylation pattern. Here, we …

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

Advances in research have boosted therapy development for congenital disorders of
glycosylation (CDG), a group of rare genetic disorders affecting protein and lipid …

Over the past decades, the genome and proteome have been widely explored for biomarker
discovery and personalized medicine. However, there is still a large need for improved …