23 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. 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
11. 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
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. Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status.

    1. Kohlschütter, B
    2. Ellerbrok, M
    3. Merkel, Martin
    4. Tchirikov, M
    5. Zschocke, J
    6. Santer, René
    7. Ullrich, Kurt

    2009 - Forschungsinformationssystem des UKE
14. Membrane translocation of glutaric acid and its derivatives.

    1. Mühlhausen, Chris
    2. Burckhardt, B
    3. Hagos, Y
    4. Burckhardt, G
    5. Keyser, Britta
    6. Lukacs, Zoltan
    7. Ullrich, Kurt

    2008 - Forschungsinformationssystem des UKE
15. High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria.

    1. Schumacher, Udo
    2. Lukacs, Zoltan
    3. Kaltschmidt, Christian
    4. Freudlsperger, Christian
    5. Schulz, Dorothea
    6. Kompisch, Kai
    7. Müller, Reinhard

    2008 - Forschungsinformationssystem des UKE
16. 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
17. MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients.

    1. Ding, Xiao-Qi
    2. Fiehler, Jens
    3. Kohlschütter, Brigitte
    4. Wittkugel, Oliver
    5. Grzyska, Ulrich
    6. Zeumer, Hermann
    7. Ullrich, Kurt

    2008 - Forschungsinformationssystem des UKE
18. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)

    1. Meyer, Ann
    2. Kossow, Kai
    3. Gal, Andreas
    4. Steglich, Cordula
    5. Mühlhausen, Chris
    6. Ullrich, Kurt
    7. Braulke, Thomas

    2008 - Forschungsinformationssystem des UKE
19. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).

    1. Meyer, Ann
    2. Kossow, Kai
    3. Gal, Andreas
    4. Mühlhausen, Chris
    5. Ullrich, Kurt
    6. Braulke, Thomas
    7. Muschol, Nicole

    2007 - Forschungsinformationssystem des UKE
20. Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I.

    1. Mühlhausen, Chris
    2. Ott, Nicola
    3. Chalajour, Fariba
    4. Tilki, Derya
    5. Freudenberg, Folke
    6. Shahhossini, Mona
    7. Thiem, Joachim

    2006 - Forschungsinformationssystem des UKE