Thorsten Marquardt

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

R Niehues, Martin Hasilik, Gordon Alton et al. · Journal of Clinical Investigation · 1998 · 427 citations · Full text

Glycobiology, Pathology, Metabolic Syndrome +16

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency

Torben Lübke, Thorsten Marquardt, Amos Etzioni et al. · Nature Genetics · 2001 · 342 citations · Full text

Mendelian Disorder, Autoimmune Disease, Disease Mechanism +15

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Julien H. Park, Max Hogrebe, Marianne Grüneberg et al. · The American Journal of Human Genetics · 2015 · 303 citations · Full text

Slc39a8 Deficiency, Biochemistry, Natural Sciences +3

The endoplasmic reticulum as a protein-folding compartment

Ari Helenius, Thorsten Marquardt, Ineke Braakman · Trends in Cell Biology · 1992 · 300 citations · Full text

Protein-folding Compartment, Cell Organelle, Protein Folding +8

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 279 citations · Full text