Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome

Journal of Inherited Metabolic Disease

Volumn 19, Issue 2, 1996, Pages 251-252

  Skladal, D ^a   Sperl, W ^a   Henry, H ^b   Bachmann, C ^b  

^a UNIVERSITY OF INNSBRUCK   (Austria)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFERRIN;

ANTERIOR HORN CELL; BLEEDING; BLOOD CLOTTING DISORDER; BRACHYDACTYLY; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL CATARACT; CONGENITAL DISORDER OF GLYCOSYLATION; HUMAN; INFANT; INFANTILE SPASM; IRIDECTOMY; ISOELECTRIC FOCUSING; NEWBORN; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS;

ABNORMALITIES, MULTIPLE; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CATARACT; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FINGERS; HUMANS; INFANT; MALE; TOES;

EID: 0029871805     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799442     Document Type: Conference Paper

References (3)

1. Eyskens F, Ceuterick C, Martin JJ, Janssens G, Jaeken J (1994) Carbohydrate-deficient glycoprotein syndrome with previously unreported features. Acta Paediatrica 83: 892-896.
2. Harrison HH, Miller KL (1992) Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis? Clin Chem 38: 1390-1392.
3. Stibler H, Jaeken J, Kristiartsson B (1991) Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand Suppl 375: 21-31.