Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome

Journal of Inherited Metabolic Disease

Volumn 19, Issue 2, 1996, Pages 257-259

  Silva, M T García ^a   De Castro, J ^a   Stibler, H ^c   Simon R ^a   Yrigoyen, A Chasco ^a   Mateos, F ^a   Ferrer, I ^b   Madero, S ^a   Velasco, J M ^a   Guttierrez Larraya, F ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFERRIN;

ANION EXCHANGE CHROMATOGRAPHY; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL DISORDER OF GLYCOSYLATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOBLOTTING; INFANT; ISOELECTRIC FOCUSING; MALE; PERICARDIAL EFFUSION; RADIOIMMUNOASSAY; TRANSFERRIN BLOOD LEVEL;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CARDIOMYOPATHY, HYPERTROPHIC; CHROMOSOMES, HUMAN, PAIR 16; FATAL OUTCOME; FETAL DISEASES; HUMANS; INFANT, NEWBORN; MALE; PERICARDIAL EFFUSION; TRANSFERRIN;

EID: 0029963916     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799444     Document Type: Conference Paper

References (6)

1. Clayton PT, Winchester BG, Keir G (1992) Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome. J Inker Metab Dis 15: 857-861.
2. Jaeken J, Stibler H, Hagberg (eds) (1991) The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. Acta Paediatr Scand (Supplement) 375: 5-71.
3. Martinsson T, Bjursell C, Stibler H, et al (1994) Linkage of a focus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. Hum Mol Genet 3(11): 2037-2042.
4. Stibler H (1991) Carbohydrate-deficient transform in serum: a new marker of potentially harmful alcohol consumption. Clin Chem 37: 2029-2037.
5. Stibler H, Jaeken J (1990) Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Arch Dis Child 65: 107-111.
6. Van der Knaap MS, Wevers RA, Van Wijk, Jacobs C (1994) Finnish type nephrotic syndrome: an unknown phenotype of carbohydrate deficient glycoprotein syndrome. 32nd Annual SSIEM Meeting, Edinburgh, abstract 141.