Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II
A Al Teneiji, TUJ Bruun, S Sidky, D Cordeiro… - Molecular genetics and …, 2017 - Elsevier
Background Congenital disorders of glycosylation (CDG) are inborn defects of glycan
metabolism. They are multisystem disorders. Analysis of transferrin isoforms is applied as a
screening test for CDG type I (CDG-I) and type II (CDG-II). We performed a retrospective
cohort study to determine spectrum of phenotype and genotype and prevalence of the
different subtypes of CDG-I and CDG-II. Material and methods All patients with CDG-I and
CDG-II evaluated in our institution's Metabolic Genetics Clinics were included. Electronic …
metabolism. They are multisystem disorders. Analysis of transferrin isoforms is applied as a
screening test for CDG type I (CDG-I) and type II (CDG-II). We performed a retrospective
cohort study to determine spectrum of phenotype and genotype and prevalence of the
different subtypes of CDG-I and CDG-II. Material and methods All patients with CDG-I and
CDG-II evaluated in our institution's Metabolic Genetics Clinics were included. Electronic …