Carbohydrate-deficient glycoprotein syndrome: Beyond the screen

Journal of Inherited Metabolic Disease

Volumn 23, Issue 4, 2000, Pages 396-398

  Fletcher, J M ^a   Matthijs, G ^b   Jaeken, J ^b   Van Schaftingen, E ^c   Nelson, P V ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c International Institute of Cellular and Molecular Pathology   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN; PHOSPHOMANNOMUTASE; TRANSFERRIN;

AMINO ACID SUBSTITUTION; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; GLYCOSYLATION; HUMAN; HUMAN CELL; INFANT; ISOELECTRIC FOCUSING; PRESCHOOL CHILD; SCREENING TEST; SIBLING;

BETA-N-ACETYLHEXOSAMINIDASE; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CELLS, CULTURED; CHILD; FEMALE; FIBROBLASTS; HUMANS; INFANT; ISOELECTRIC FOCUSING; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); TRANSFERRIN;

EID: 0034080083     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005660004047     Document Type: Conference Paper

References (4)

1. Jaeken J (1980) Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? Pediatr Res 14: 179.
2. Matthijs G, Schollen E, Van Schaftingen E, Cassimanin J-J, Jaeken J (1998) Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet 62: 542-550.
3. Ohno K, Yuasa I, Akaboshi S, et al (1992) The carbohydrate deficient glycoprotein syndrome in three Japanese children. Brain Dev 14: 30-35.
4. Van Schaftingen E, Jaeken J (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type 1. FEBS Lett 377: 318-320.