J. Jaeken

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, Paul Casaer et al. · Pediatric Research · 1980 · 278 citations · Full text

Csf Protein, Mendelian Disorder, Autoimmune Disease +11

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

J. Jaeken, H.G. van Eijk, C. Van Der Heul et al. · Clinica Chimica Acta · 1984 · 273 citations

Mendelian Disorder, Genetic Disorder, Cerebrospinal Fluid +10

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

<scp>L</scp>‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease

P. G. Barth, Georg F. Hoffmann, J. Jaeken et al. · Annals of Neurology · 1992 · 150 citations

Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.

Wim Vermeulen, J. Jaeken, N.G.J. Jaspers et al. · PubMed · 1993 · 104 citations