title: Normal glycosylation screening does not rule out SRD5A3-CDG.
authors.forename: Miski
authors.initials: M
authors.lastname: Mohamed
authors.forename: Vincent
authors.initials: V
authors.lastname: Cantagrel
authors.forename: Lihadh
authors.initials: L
authors.lastname: Al-Gazali
authors.forename: Ron A
authors.initials: RA
authors.lastname: Wevers
authors.forename: Dirk J
authors.initials: DJ
authors.lastname: Lefeber
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D008565:Membrane Proteins; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase