1. 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?;Jaeken;Pediat Res,1980
2. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome;Jaeken;Clin Chim Acta,1984
3. Disialotransferrin developmental deficiency syndrome;Kristiansson;Arch Dis Child,1989
4. The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement;Jaeken;Acta Paediatr Scand Suppl,1991
5. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development;Tan;Am J Hum Genet,1996