Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I)

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 1197-1198

  Jackson, M ^a   Clayton, P ^b   Grunewald, S ^b   Keir, G ^c   Mills, K ^d   Mills, P ^d   Winchester, B ^d   Worthington, V ^c   Young, E ^a,d  

^a Enzyme Laboratory   (United Kingdom)

^b Metabolic Unit   (United Kingdom)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; LYSOSOME ENZYME; N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE;

ARTICLE; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1B; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1C; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1F; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1H; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1X; DIAGNOSTIC VALUE; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME BLOOD LEVEL; GLYCOSYLATION; HUMAN;

ASPARTYLGLUCOSYLAMINASE; CARBOHYDRATE METABOLISM, INBORN ERRORS; FIBROBLASTS; GLYCOSYLATION; HUMANS; LEUKOCYTES; LIPID METABOLISM; LIPIDS; MANNOSE-6-PHOSPHATE ISOMERASE; OLIGOSACCHARIDES; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); TIME FACTORS;

EID: 31644445579     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0157-z     Document Type: Article

References (3)

1. Clayton P, Winchester B, di Tomaso M, Young E, Keir G, Rodeck C (1993) Carbohydrate-deficient glycoprotein syndrome: Normal glycosylation in the fetus. Lancet 341: 956.
2. Jaeken J (2003) Congenital disorders of glycosylation (CDG): Its all in it! J Inherit Metab Dis 26: 99-118.
3. Stibler H, Jaeken J, Kristiansson B (1991) Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand Suppl 375: 21-31.