Carbohydrate-deficient glycoprotein syndrome type 2

Journal of Inherited Metabolic Disease

Volumn 22, Issue 2, 1999, Pages 192-193

  Engelhardt, H ^a   Staudt, M ^a,c   Hassler A ^a   Holzbach, U ^b   Freisinger, P ^d   Krageloh Mann I ^a  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c Children's Hospital   (Germany)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN; N ACETYLGLUCOSAMINYLTRANSFERASE; TRANSFERRIN;

ARTICLE; CASE REPORT; CHROMOSOME 14Q; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME ACTIVITY; FEMALE; GLYCOSYLATION; HUMAN; INFANT; ISOELECTRIC FOCUSING; NEWBORN; POINT MUTATION; PRESCHOOL CHILD;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD; FEMALE; HUMANS;

EID: 0032953622     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005422610091     Document Type: Article

References (4)

1. Jaeken J, De Cock P, Stibler H, et al (1991) Carbohydrate-deficient glycoprotein syndrome type II. J Inher Metab Dis 16: 1041.
2. Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G (1994) Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised JV-acetyl-glucosa-minyltransferase II. Arch Dis Child 71: 123-127.
3. Ramaekers VT, Stibler H, Kint J, Jaeken J (1991) A new variant of the carbohydrate-deficient glycoprotein syndrome. J Inher Metab Dis 14: 385-388.
4. Tan J, Dunn J, Jaeken J, Schachter H (1996) Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. Am J Hum Genet 59: 810-817.