13 Einträge gefunden

1. Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: a retrospective cohort study

   1. Dohrmann, Thorsten
   2. Muschol, Nicole M
   3. Sehner, Susanne
   4. Punke, Mark A
   5. Haas, Sebastian A
   6. Roeher, Katharina
   7. Breyer, Sandra

   2020 - Forschungsinformationssystem des UKE
2. Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)

   1. Muschol, Nicole M
   2. Pape, Daniel
   3. Kossow, Kai
   4. Ullrich, Kurt
   5. Arash-Kaps, Laila
   6. Hennermann, Julia B
   7. Stücker, Ralf

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
3. Phenylketonuria: Direct and indirect effects of phenylalanine

   1. Schlegel, Gudrun
   2. Scholz, Ralf
   3. Ullrich, Kurt
   4. Santer, René
   5. Rune, Gabriele M

   2016 - Forschungsinformationssystem des UKE
4. Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation

   1. Schmidt, Mona
   2. Breyer, Sandra
   3. Löbel, Ulrike
   4. Yarar, Sinef
   5. Stücker, Ralf
   6. Ullrich, Kurt
   7. Müller, Ingo

   2016 - Forschungsinformationssystem des UKE - frei zugänglich
5. Hippocampal synaptic connectivity in phenylketonuria

   1. Horling, Katja
   2. Schlegel, Gudrun
   3. Schulz, Sarah
   4. Vierk, Ricardo
   5. Ullrich, Kurt
   6. Santer, Rene
   7. Rune, Gabriele

   2015 - Forschungsinformationssystem des UKE
6. Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins

   1. Schmiesing, Jessica
   2. Schlüter, Hartmut
   3. Ullrich, Kurt
   4. Braulke, Thomas
   5. Mühlhausen, Chris

   2014 - Forschungsinformationssystem des UKE - frei zugänglich
7. Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment

   1. Mühlhausen, Chris
   2. Salomons, Gajja S
   3. Lukacs, Zoltan
   4. Struys, Eduard A
   5. van der Knaap, Marjo S
   6. Ullrich, Kurt
   7. Santer, René

   2014 - Forschungsinformationssystem des UKE
8. Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1

   1. Thies, Bastian
   2. Meyer-Schwesinger, Catherine
   3. Lamp, Jessica
   4. Schweizer, Michaela
   5. Koeller, David M
   6. Ullrich, Kurt
   7. Braulke, Thomas

   2013 - Forschungsinformationssystem des UKE
9. Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome

   1. Muschol, Nicole
   2. Pohl, Sandra
   3. Meyer, Ann
   4. Gal, Andreas
   5. Ullrich, Kurt
   6. Braulke, Thomas

   2011 - Forschungsinformationssystem des UKE
10. Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.

    1. Lamp, Jessica
    2. Keyser, Britta
    3. Koeller, David M
    4. Ullrich, Kurt
    5. Braulke, Thomas
    6. Mühlhausen, Chris

    2011 - Forschungsinformationssystem des UKE
11. Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.

    1. Lebrun, Anne-Hélène
    2. Moll-Khasrawi, Parisa
    3. Pohl, Sandra
    4. Makrypidi, Georgia
    5. Storch, Stephan
    6. Kilian, Dirk
    7. Streichert, Thomas

    2011 - Forschungsinformationssystem des UKE - frei zugänglich
12. 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

    1. Pohl, Sandra
    2. Tiede, Stephan
    3. Marschner, Katrin
    4. Encarnação, Marisa
    5. Castrichini, Monica
    6. Kollmann, Katrin
    7. Muschol, Nicole

    2010 - Forschungsinformationssystem des UKE
13. Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)

    1. Keyser, Britta
    2. Mühlhausen, Chris
    3. Dickmanns, Achim
    4. Christensen, Ernst
    5. Muschol, Nicole
    6. Ullrich, Kurt
    7. Braulke, Thomas

    2008 - Forschungsinformationssystem des UKE