Glycosylation of proteins and lipids in mammals is essential for embryogenesis and the
development of all tissues. Analyses of glycosylation mutants in cultured mammalian cells …

Congenital disorders of glycosylation (CDG) and mitochondrial disorders are multisystem
disorders with overlapping symptomatology. Pathogenic variants in the PMM2 gene lead to …

While the identification and diagnosis of congenital disorders of glycosylation (CDG) have
rapidly progressed, the available treatment options are still quite limited. Mostly, we are only …

Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn
error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired …

Core components of the N-glycosylation pathway are known, but the metabolic and post-
translational mechanisms regulating this pathway in normal and disease states remain …

Abstract Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent congenital
disorder of glycosylation, is an autosomal recessive disease caused by biallelic pathogenic …

Objective Our report describes clinical, genetic, and biochemical features of participants with
a molecularly confirmed congenital disorder of glycosylation (CDG) enrolled in the Frontiers …

Inherited deficiency of phosphomannomutase 2 (PMM2)(aka PMM2-CDG) is the most
common congenital disorders of glycosylation (CDG) and has no cure. With debilitating …

Congenital disorders of glycosylation (CDG) are one of the fastest growing groups of inborn
errors of metabolism, comprising over 160 described diseases to this day. CDG are …

Summary The Aldo-Keto Reductase 1B (AKR1B) subfamily was initially known for its
association with the pathogenesis of secondary diabetic complications such as retinopathy …