References
Clayton PT, Winchester BG, Keir G (1992) Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome.J Inher Metab Dis 15: 857–861.
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.
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.
Stibler H (1991) Carbohydrate-deficient transferrin in serum: a new marker of potentially harmful alcohol consumption.Clin Chem 37: 2029–2037.
Stibler H, Jaeken J (1990) Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.Arch Dis Child 65: 107–111.
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.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
García Silva, M.T., de Castro, J., Stibler, H. et al. Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 19, 257–259 (1996). https://doi.org/10.1007/BF01799444
Issue Date:
DOI: https://doi.org/10.1007/BF01799444