Early manifestations of the carbohydrate-deficient glycoprotein syndrome

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

Helena Stibler · Clinical Chemistry · 1991 · 658 citations

Pharmacy, Biochemistry, Alcohol Toxicology +14

Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90

J. Jaeken, M Vanderschueren‐Lodeweyckx, L Snoeck et al. · Pediatric Research · 1980 · 289 citations

Medicine, Endocrinology, Neurology +8

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

Medicine, Molecular Genetics, Neurology +13

Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.

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

Life Sciences, Biochemistry, Carbohydrate Biochemistry +10

Biochemical Characteristics and Diagnosis of the Carbohydrate‐deficient Glycoprotein Syndrome

Helena Stibler, Jaak Jaeken, B. Kristiansson · Acta Paediatrica · 1991 · 119 citations

Life Sciences, Biochemistry, Molecular Biology +17