Early ocular manifestations in an infant with carbohydratedeficient glycoprotein syndrome type Ia

Journal of Pediatric Ophthalmology and Strabismus

Volumn 40, Issue 3, 2003, Pages 179-181

  Laplace, Olivier ^a   Voegtle, Rémy ^b   Rigolet, Marie Hélène ^b   Bourcier, Tristan ^b   Nordmann, Jean Philippe ^b  

^a CENTRE HOSPITALIER NATIONAL D OPHTALMOLOGIE DES QUINZE VINGTS   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; DISEASE ASSOCIATION; DISEASE COURSE; ELECTRORETINOGRAM; EYE DISEASE; HUMAN; MALE; PATHOPHYSIOLOGY; PRESCHOOL CHILD; RETINOPATHY;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CEREBELLUM; ELECTRORETINOGRAPHY; EYE DISEASES; FUNDUS OCULI; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; NYSTAGMUS, PATHOLOGIC; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); SYNDROME;

EID: 0037570664     PISSN: 01913913     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Keir G, Winchester BG, Clayton P. Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation. Ann Clin Biochem 1999;36(part 1):20-36.
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