title: Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.
abstract: We present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum.
authors.affiliation: Glycobiology and Carbohydrate Chemistry Program, The Burnham Institute, La Jolla, California 92037, USA.
authors.forename: Erik A
authors.initials: EA
authors.lastname: Eklund
authors.forename: Liangwu
authors.initials: L
authors.lastname: Sun
authors.forename: Vibeke
authors.initials: V
authors.lastname: Westphal
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Northrop
authors.forename: Hudson H
authors.initials: HH
authors.lastname: Freeze
authors.forename: Fernando
authors.initials: F
authors.lastname: Scaglia
mesh_terms: D001851:Bone Diseases, Metabolic; D002386:Cataract; D002493:Central Nervous System Diseases; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008107:Liver Diseases; D011504:Protein-Losing Enteropathies