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

Carbohydrate-Deficient Transferrin in Serum: a New Marker of Potentially Harmful Alcohol Consumption Reviewed

Helena Stibler · Clinical Chemistry · 1991 · 655 citations

Alcohol Misuse, New Marker, Clinical Chemistry +16

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.

J. Jaeken, Helena Stibler, Bengt Hagberg · PubMed · 1991 · 156 citations

Neurological Disorder, Medicine, Inherited Metabolic Disease +8

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.

Helena Stibler, J Jaeken · Archives of Disease in Childhood · 1990 · 152 citations · Full text

Adrenal Gland, Autoimmune Disease, Medicine +14

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

Peter T. Clayton, Bryan Winchester, Geoffrey Keir · Journal of Inherited Metabolic Disease · 1992 · 70 citations

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.

Tommy Martinsson, Cecilia Bjursell, Helena Stibler et al. · PubMed · 1994 · 63 citations

Linkage Techniques, Genetics, Glycobiology +17