4 Einträge gefunden

1. Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

   1. Cobos, Paulina Nieves
   2. Steglich, Cordula
   3. Santer, René
   4. Lukacs, Zoltan
   5. Gal, Andreas

   2014 - Forschungsinformationssystem des UKE - frei zugänglich
2. 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
3. First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I.

   1. Tomi, Diana
   2. Schultze-Mosgau, Askan
   3. Eckhold, Juliane
   4. Schopper, Beate
   5. Al-Hasani, Safaa
   6. Steglich, Cordula
   7. Gal, Andreas

   2006 - Forschungsinformationssystem des UKE
4. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

   1. Hübner, Christian A
   2. Orth, Ulrike
   3. Senning, Arne
   4. Steglich, Cordula
   5. Kohlschütter, Alfried
   6. Korinthenberg, Rudolf
   7. Gal, Andreas

   2005 - Forschungsinformationssystem des UKE