title: Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration.
authors.forename: M Y
authors.initials: MY
authors.lastname: Kahook
authors.forename: N
authors.initials: N
authors.lastname: Mandava
authors.forename: J B
authors.initials: JB
authors.lastname: Bateman
authors.forename: J A
authors.initials: JA
authors.lastname: Thomas
mesh_terms: D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D005260:Female; D005964:Glucosyltransferases / Q000235:genetics; D006031:Glycosylation; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D011559:Pseudotumor Cerebri / Q000175:diagnosis*; D012162:Retinal Degeneration / Q000175:diagnosis*; D013577:Syndrome
chemical_list: D008565:Membrane Proteins; C498467:ALG6 protein, human; D005964:Glucosyltransferases