4 Einträge gefunden

1. Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation

   1. Schmidt, Mona
   2. Breyer, Sandra
   3. Löbel, Ulrike
   4. Yarar, Sinef
   5. Stücker, Ralf
   6. Ullrich, Kurt
   7. Müller, Ingo

   2016 - Forschungsinformationssystem des UKE - frei zugänglich
2. Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome

   1. Muschol, Nicole
   2. Pohl, Sandra
   3. Meyer, Ann
   4. Gal, Andreas
   5. Ullrich, Kurt
   6. Braulke, Thomas

   2011 - Forschungsinformationssystem des UKE
3. Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages

   1. Pohl, Sandra
   2. Tiede, Stephan
   3. Marschner, Katrin
   4. Encarnação, Marisa
   5. Castrichini, Monica
   6. Kollmann, Katrin
   7. Muschol, Nicole

   2010 - Forschungsinformationssystem des UKE
4. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)

   1. Keyser, Britta
   2. Mühlhausen, Chris
   3. Dickmanns, Achim
   4. Christensen, Ernst
   5. Muschol, Nicole
   6. Ullrich, Kurt
   7. Braulke, Thomas

   2008 - Forschungsinformationssystem des UKE