title: Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.
authors: Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
authors: Jaak
authors: J
authors: Jaeken
authors: Department of Neurology, Laboratory of Genetic, Endocrine and Metabolic Diseases, Nijmegen, The Netherlands.
authors: Dirk
authors: D
authors: Lefeber
authors: Centre for Human Genetics, KU Leuven, Leuven, Belgium.
authors: Gert
authors: G
authors: Matthijs
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing; D005964:Glucosyltransferases / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D011296:Prenatal Diagnosis
chemical_list: D008565:Membrane Proteins; C498467:ALG6 protein, human; D005964:Glucosyltransferases