Concepedia

A Novel Single-Chain Antibody Fragment for Detection of Mannose 6-Phosphate-Containing Proteins

Sven Müller‐Loennies, Giovanna Galliciotti, Katrin Kollmann, Markus Glatzel, Thomas Braulke

American Journal Of Pathology · 2010 · 47 citations · 25 references

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25

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

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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

Mucolipidosis II is caused by mutations in GNPTA encoding the α/β GlcNAc-1-phosphotransferase

Stephan Tiede, Stephan Storch, Torben Lübke et al. · Nature Medicine · 2005 · 210 citations · Full text

, , +9

The genetic mucolipidoses

Jürgen W. Spranger, H. ‐R. Wiedemann · Human Genetics · 1970 · 201 citations

Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

Annick Raas‐Rothschild, Valérie Cormier‐Daire, Ming Bao et al. · Journal of Clinical Investigation · 2000 · 198 citations · Full text

, , +17