title: Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia.
authors.affiliation: Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia. david.coman@ghsv.org.au
authors.forename: D
authors.initials: D
authors.lastname: Coman
authors.forename: D
authors.initials: D
authors.lastname: Bostock
authors.forename: M
authors.initials: M
authors.lastname: Hunter
authors.forename: P
authors.initials: P
authors.lastname: Kannu
authors.forename: M
authors.initials: M
authors.lastname: Irving
authors.forename: V
authors.initials: V
authors.lastname: Mayne
authors.forename: M
authors.initials: M
authors.lastname: Fietz
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: R
authors.initials: R
authors.lastname: Savarirayan
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D006031:Glycosylation; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000000981:diagnostic imaging / Q000235:genetics*; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics; D011859:Radiography
chemical_list: D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human