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 …

Congenital disorders of glycosylation (CDG) are a group of more than 160 inborn errors of
metabolism affecting multiple pathways of protein and lipid glycosylation. Patients present …

Mannose is a naturally occurring sugar widely consumed in the daily diet; however,
mechanistic insights into how mannose metabolism affects intestinal inflammation remain …

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 …

With one in ten suffering from one of 10,000 rare diseases, precision medicine opens a path
toward identifying therapies for rare patients. Conversely, it is rare patients—through their …

Abnormal polyol metabolism is predominantly associated with diabetes, where excess
glucose is converted to sorbitol by aldose reductase (AR). Recently, abnormal polyol …

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

Congenital disorders of glycosylation are genetic disorders that occur due to defects in
protein and lipid glycosylation pathways. A deficiency of N‐glycanase 1, encoded by the …

Patient-reported outcomes (PROs) measure important aspects of disease burden, however
they have received limited attention in the care of patients with Congenital Disorders of …

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