title: Congenital disorders of glycosylation: have you encountered them?
authors.affiliation: The Burnham Institute, La Jolla, California 92037, USA.
authors.forename: V
authors.initials: V
authors.lastname: Westphal
authors.forename: G
authors.initials: G
authors.lastname: Srikrishna
authors.forename: H H
authors.initials: HH
authors.lastname: Freeze
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D005808:Genes, Recessive / Q000235:genetics; D006031:Glycosylation; D006801:Humans; D007525:Isoelectric Focusing / Q000379:methods; D008358:Mannose / Q000378:metabolism* / Q000627:therapeutic use; D009123:Muscle Hypotonia / Q000175:diagnosis; D009154:Mutation / Q000235:genetics; D009844:Oligosaccharides / Q000096:biosynthesis / Q000737:chemistry; D011596:Psychomotor Disorders / Q000175:diagnosis; D014168:Transferrin
chemical_list: D009844:Oligosaccharides; D014168:Transferrin; D008358:Mannose