title: Clinical utility gene card for: Phosphomannose isomerase deficiency.
authors.affiliation: Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.affiliation: Dpartment of Neurology, Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboudumc, Nijmegen, The Netherlands.
authors.forename: Dirk
authors.initials: D
authors.lastname: Lefeber
authors.affiliation: Centre for Human Genetics, KU Leuven, Leuven, Belgium.
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008359:Mannose-6-Phosphate Isomerase / Q000172:deficiency* / Q000235:genetics; D009154:Mutation
chemical_list: D008359:Mannose-6-Phosphate Isomerase