Early ocular manifestations in an infant with carbohydrate-deficient glycoprotein syndrome type Ia.
Laplace
Olivier
O
Centre Hospitalier National d'Ophtalmologie des Qunize-Vingts, Paris, France.
Voegtle
Rémy
R
Rigolet
Marie-Hélène
MH
Bourcier
Tristan
T
Nordmann
Jean-Philippe
JP
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
D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase