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- Muschol, Nicole
- Braulke, Thomas 9
- Ullrich, Kurt 6
- Kahl-Nieke, Bärbel 5
- Koehne, Till 5
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33 Einträge gefunden
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Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis
2016 - Forschungsinformationssystem des UKE -
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study
- Burton, Barbara K
- Berger, Kenneth I
- Lewis, Gregory D
- Tarnopolsky, Mark
- Treadwell, Marsha
- Mitchell, John J
- Muschol, Nicole
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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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Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
- Lampe, Christina
- Bosserhoff, Ann-Kathrin
- Burton, Barbara K
- Giugliani, Roberto
- de Souza, Carolina F
- Bittar, Camila
- Muschol, Nicole
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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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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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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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Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1
- Keyser, Britta
- Glatzel, Markus
- Stellmer, Franziska
- Kortmann, Bastian
- Lukacs, Zoltan
- Kölker, Stefan
- Sauer, Sven W
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Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
2007 - Forschungsinformationssystem des UKE -
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
2007 - Forschungsinformationssystem des UKE -