title: Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).
authors.forename: E
authors.initials: E
authors.lastname: Schollen
authors.forename: C G
authors.initials: CG
authors.lastname: Frank
authors.forename: L
authors.initials: L
authors.lastname: Keldermans
authors.forename: R
authors.initials: R
authors.lastname: Reyntjens
authors.forename: C E
authors.initials: CE
authors.lastname: Grubenmann
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
authors.forename: B G
authors.initials: BG
authors.lastname: Winchester
authors.forename: J
authors.initials: J
authors.lastname: Smeitink
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: M
authors.initials: M
authors.lastname: Aebi
authors.forename: T
authors.initials: T
authors.lastname: Hennet
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000401:mortality; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005964:Glucosyltransferases / Q000172:deficiency* / Q000235:genetics*; D006031:Glycosylation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics / Q000502:physiology; D020125:Mutation, Missense / Q000235:genetics / Q000502:physiology; D022821:RNA Splice Sites / Q000235:genetics / Q000502:physiology
chemical_list: D022821:RNA Splice Sites; C473777:ALG8 protein, human; D005964:Glucosyltransferases