Concepedia

I-cell disease

Jean‐Jacques Martin, J. G. Leroy, M. van Eygen

Acta Neuropathologica · 1984 · 129 citations · 20 references

DOI

References

20

The Metabolic Basis of Inherited Disease

Matthew D. Crawford · Journal of Clinical Pathology · 1983 · 960 citations · Full text

, , +13

Principles and Practice of Medical Genetics

M. S. Pembrey · Archives of Disease in Childhood · 1984 · 779 citations · Full text

, , +12

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

, , +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

, , +7

Ultrastructural Pathology of the Cell

Tapen Mukherjee · Pathology · 1976 · 239 citations

, , +12