Congenital disorders of glycosylation are a genetically and clinically heterogeneous group
of> 130 diseases caused by defects in various steps along glycan modification pathways …

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 group of clinically and genetically
heterogeneous metabolic disorders. Over 150 CDG types have been described. Most CDG …

Purpose Availability of clinical genomic sequencing (CGS) has generated questions about
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …

The ketogenic diet (KD) is an established, nonpharmacological treatment for drug-resistant
epilepsy (DRE). Actually, KD and its variants have been shown to be elective and resolute …

It is estimated that 0.5% of all mammalian proteins have a glycosylphosphatidylinositol (GPI)‐
anchor. GPI‐anchored proteins (GPI‐APs) play key roles, particularly in embryogenesis …

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

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 …

Abstract Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a
group of phenotypically overlapping recessive syndromes with intellectual disability, for …

Genetic sequencing technologies have led to an increase in the identification and
characterization of monogenic epilepsy syndromes. This increase has, in turn, generated …