title: Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations.
abstract: We report two novel mutations in the PMM2 gene in a girl with congenital disorder of gylcosylation type Ia (CDG Ia) and a mild intellectual phenotype.
authors.affiliation: Department of Metabolic Medicine, The Royal Children's Hospital Brisbane, Queensland, Australia. david_coman@health.qld.gov.au
authors.forename: D
authors.initials: D
authors.lastname: Coman
authors.forename: S
authors.initials: S
authors.lastname: Klingberg
authors.forename: D
authors.initials: D
authors.lastname: Morris
authors.forename: J
authors.initials: J
authors.lastname: McGill
authors.forename: H
authors.initials: H
authors.lastname: Mercer
mesh_terms: D000483:Alleles; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000473:pathology*; D002648:Child; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005838:Genotype; D006031:Glycosylation; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D009154:Mutation; D010641:Phenotype; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics*; D013997:Time Factors; D014168:Transferrin
chemical_list: D014168:Transferrin; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase