Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a
defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ …

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 …

Copper is an essential metal required for many metalloproteins' function. A fraction of dietary
copper (average 2–5 mg/day) is absorbed by enterocytes in the duodenum and proximal …

In the human body, glycogen is a branched polymer of glucose stored mainly in the liver and
the skeletal muscle that supplies glucose to the blood stream during fasting periods and to …

Information about normal hepatic glucose metabolism may help to understand pathogenic
mechanisms underlying obesity and diabetes mellitus. In addition, liver glucose metabolism …

Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy
production and storage in several human tissues while also being a precursor for …

Water pollution caused by widely used agricultural pesticide chlorpyrifos (CPF) has aroused
extensive public concern. While previous studies have reported on toxic effect of CPF on …

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 …

SLC39A8 is a membrane transporter responsible for manganese uptake into the cell. Via
whole-exome sequencing, we studied a child that presented with cranial asymmetry, severe …

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 …