The carbohydrate deficient glycoprotein syndrome in three Japanese children

Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity.

Marc L. Reitman, Ajit Varki, Stuart Kornfeld · Journal of Clinical Investigation · 1981 · 321 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in l-cell fibroblasts

Andrej Hasilík, Abdül Waheed, Kurt Von Figura · Biochemical and Biophysical Research Communications · 1981 · 298 citations

Life Sciences, Biochemistry, Molecular Biology +7

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 · 276 citations

Life Sciences, Genetics, Molecular Genetics +13

Altered glycosylation of serum transferrin of patients with hepatocellular carcinoma

Koji Yamashita, Naoki Koide, Tetsuya Endo et al. · Journal of Biological Chemistry · 1989 · 165 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

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