title: Early ocular manifestations in an infant with carbohydrate-deficient glycoprotein syndrome type Ia.
authors.affiliation: Centre Hospitalier National d'Ophtalmologie des Qunize-Vingts, Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Laplace
authors.forename: Rémy
authors.initials: R
authors.lastname: Voegtle
authors.forename: Marie-Hélène
authors.initials: MH
authors.lastname: Rigolet
authors.forename: Tristan
authors.initials: T
authors.lastname: Bourcier
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Nordmann
mesh_terms: D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000201:enzymology; D004596:Electroretinography; D005128:Eye Diseases / Q000175:diagnosis* / Q000201:enzymology; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000201:enzymology; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency; D013577:Syndrome
chemical_list: D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase