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Volumn 25, Issue 4, 2002, Pages 404-408

Carbohydrate-deficient-glycoprotein syndrome and ophthalmological manifestations;Syndrome d'hypoglycosylation des glycoprotéines sériques et manifestations ophtalmologiques

Author keywords

CDG Syndrom; Esotropia; Nystagmoid movements; Retinitis pigmentosa

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION; CONVERGENT STRABISMUS; ELECTRORETINOGRAM; EYE DISEASE; EYE MOVEMENT; HUMAN; MALE; NIGHT VISION; NYSTAGMUS; OPHTHALMOSCOPY; PERICARDIAL EFFUSION; PROGNOSIS; RETINITIS PIGMENTOSA;

EID: 0036247739     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (40)
  • 6
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    • Diseases of abnormal protein glycosylation: An emerging area
    • (1998) J Clin Invest , vol.101 , pp. 1293-1315
    • Kornfeld, S.1
  • 7
    • 0032726532 scopus 로고    scopus 로고
    • Screening for « prelysosomal disorders »: Carbohydrate-deficient glycoprotein syndromes
    • (1999) J Child Neurol , vol.14 , Issue.SUPPL. 1 , pp. 16-22
    • Patterson, M.C.1
  • 23
    • 0028924164 scopus 로고
    • Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence
    • (1995) Pediatr Res , vol.37 , pp. 395-401
    • De Zegher, F.1    Jaeken, J.2
  • 37
    • 0029908518 scopus 로고    scopus 로고
    • Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type I over a period of 14 years
    • (1996) Br J Ophthalmol , vol.80 , pp. 900-902
    • Casteels, I.1    Splieers, W.2    Leys, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.