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- Muschol, Nicole
- Ullrich, Kurt
- Braulke, Thomas 5
- Gal, Andreas 3
- Meyer, Ann 3
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6 Einträge gefunden
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Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation
2016 - Forschungsinformationssystem des UKE - frei zugänglich -
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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
- Pohl, Sandra
- Tiede, Stephan
- Marschner, Katrin
- Encarnação, Marisa
- Castrichini, Monica
- Kollmann, Katrin
- Muschol, Nicole
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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
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Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
2007 - Forschungsinformationssystem des UKE