3 Einträge gefunden

1. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)

   1. Meyer, Ann
   2. Kossow, Kai
   3. Gal, Andreas
   4. Steglich, Cordula
   5. Mühlhausen, Chris
   6. Ullrich, Kurt
   7. Braulke, Thomas

   2008 - Forschungsinformationssystem des UKE
2. 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
3. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).

   1. Meyer, Ann
   2. Kossow, Kai
   3. Gal, Andreas
   4. Mühlhausen, Chris
   5. Ullrich, Kurt
   6. Braulke, Thomas
   7. Muschol, Nicole

   2007 - Forschungsinformationssystem des UKE