title: Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism.
authors: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors: Anas M
authors: AM
authors: Alazami
authors: Dorota
authors: D
authors: Monies
authors: Brian F
authors: BF
authors: Meyer
authors: Fatema
authors: F
authors: Alzahrani
authors: Mais
authors: M
authors: Hashem
authors: Mustafa A
authors: MA
authors: Salih
authors: Fowzan S
authors: FS
authors: Alkuraya
mesh_terms: D001851:Bone Diseases, Metabolic; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics
chemical_list: D017351:N-Acetylglucosaminyltransferases; C063313:alpha-1,6-mannosyl-glycoprotein beta-1,2-N-acetylglucosaminyltransferase