Facetten
Zugriff
Einrichtung
Medientyp
- Text 4
Karte
Erscheinungsjahr
Autor/in
- Gal, Andreas 4
- Steglich, Cordula
- Al-Hasani, Safaa 1
- Axt-Fliedner, Roland 1
- Braulke, Thomas 1
- alle zeigen
Sprache
4 Einträge gefunden
-
Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis
2014 - Forschungsinformationssystem des UKE - frei zugänglich -
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
- Meyer, Ann
- Kossow, Kai
- Gal, Andreas
- Steglich, Cordula
- Mühlhausen, Chris
- Ullrich, Kurt
- Braulke, Thomas
-
-
Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
- Hübner, Christian A
- Orth, Ulrike
- Senning, Arne
- Steglich, Cordula
- Kohlschütter, Alfried
- Korinthenberg, Rudolf
- Gal, Andreas