Marquardt, Thorsten

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

Niehues, R., Hasilik, M., Alton, G., Körner, C., Schiebe-Sukumar, M., Koch, H. G., Zimmer, K. P., Wu, R., Harms, E., Reiter, K., et al. (1998) · Journal of Clinical Investigation

Glycogen Storage Diseases and MyoclonusLysosomal Storage Disorders Research

Cited by 422

Correction of leukocyte adhesion deficiency type II with oral fucose

Marquardt, T., Lühn, K., Srikrishna, G., Freeze, H. H., Harms, E., & Vestweber, D. (1999) · Blood

Immunodeficiency and Autoimmune DisordersMetabolism and Genetic Disorders

Cited by 280

A gene encoding a putative FAD-dependent l -2-hydroxyglutarate dehydrogenase is mutated in l -2-hydroxyglutaric aciduria

Rzem, R., Veiga-da-Cunha, M., Noël, G., Goffette, S., Nassogne, M.-C., Tabarki, B., Schöller, C., Marquardt, T., Vikkula, M., & Van Schaftingen, E. (2004) · Proceedings of the National Academy of Sciences

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 195

Discontinuation of fucose therapy in LADII causes rapid loss of selectin ligands and rise of leukocyte counts

Lühn, K., Marquardt, T., Harms, E., & Vestweber, D. (2001) · Blood

Immunodeficiency and Autoimmune DisordersCell Adhesion Molecules Research

Cited by 66