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Autor/in
- Braulke, Thomas
- Muschol, Nicole
- Ullrich, Kurt 5
- Gal, Andreas 3
- Meyer, Ann 3
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9 Einträge gefunden
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Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI
- Nagpal, Rohit
- Georgi, Gina
- Knauth, Sarah
- Schmid-Herrmann, Carmen
- Muschol, Nicole
- Braulke, Thomas
- Kahl-Nieke, Bärbel
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Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions
- Otomo, Takanobu
- Schweizer, Michaela
- Kollmann, Katrin
- Schumacher, Valéa
- Muschol, Nicole
- Tolosa, Eva
- Mittrücker, Hans-Willi
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Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.
- Pohl, Sandra
- Encarnação, Marisa
- Castrichini, Monica
- Müller-Loennies, Sven
- Muschol, Nicole
- Braulke, Thomas
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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