27 Einträge gefunden

1. Exom-Sequenzierung bei Kindern:Ungeklärte Entwicklungsstörungen und neurologische Erkrankungen, Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

   1. Mahler, Elisa A
   2. Johannsen, Jessika
   3. Tsiakas, Konstantinos
   4. Kloth, Katja
   5. Lüttgen, Sabine
   6. Mühlhausen, Chris
   7. Alhaddad, Bader

   2019 - Forschungsinformationssystem des UKE
2. Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation, and mitochondria architecture

   1. Schmiesing, Jessica
   2. Lohmöller, Benjamin
   3. Schweizer, Michaela
   4. Tidow, Henning
   5. Gersting, Søren W
   6. Muntau, Ania C
   7. Braulke, Thomas

   2017 - Forschungsinformationssystem des UKE
3. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

   1. Boy, Nikolas
   2. Mühlhausen, Chris
   3. Maier, Esther M
   4. Heringer, Jana
   5. Assmann, Birgit
   6. Burgard, Peter
   7. Dixon, Marjorie

   2017 - Forschungsinformationssystem des UKE
4. Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

   1. Zeltner, Nina A
   2. Landolt, Markus A
   3. Baumgartner, Matthias R
   4. Lageder, Sarah
   5. Quitmann, Julia
   6. Sommer, Rachel
   7. Karall, Daniela

   2017 - Forschungsinformationssystem des UKE - frei zugänglich
5. Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

   1. Jamiolkowski, Dagmar
   2. Kölker, Stefan
   3. Glahn, Esther M
   4. Barić, Ivo
   5. Zeman, Jiri
   6. Baumgartner, Matthias R
   7. Mühlhausen, Chris

   2016 - Forschungsinformationssystem des UKE
6. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

   1. Kremer, Laura S
   2. Distelmaier, Felix
   3. Alhaddad, Bader
   4. Hempel, Maja
   5. Iuso, Arcangela
   6. Küpper, Clemens
   7. Mühlhausen, Chris

   2016 - Forschungsinformationssystem des UKE
7. Spezifische Symptomkombination der chronischen Quecksilberintoxikation: Arterielle Hypertension, Entwicklungsregression und Automutilation

   1. Hermann, Katharina
   2. Varwig-Janßen, Domenica
   3. Budnik, Lygia Therese
   4. Nordholt, Gerhard
   5. Reinshagen, Konrad
   6. Oh, Jun
   7. Santer, Rene

   2015 - Forschungsinformationssystem des UKE
8. Neonatale Stoffwechselentgleisung: Hyperventilation bei Hyperammoniämie

   1. Kehl, Torben
   2. Tsiakas, Konstantinos
   3. Mühlhausen, Chris
   4. Santer, Rene
   5. C, Walter,
   6. Dr. von der Wense, Axel
   7. Singer, Dominique

   2014 - Forschungsinformationssystem des UKE
9. 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
10. 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
11. Ambient-und Biomonitoring nach Quecksilberintoxikation

    1. Budnik, Lygia Therese
    2. Hermann, Katharina
    3. Preisser, Alexandra Marita
    4. Nordholt, Gerhard
    5. Harth, Volker
    6. Mühlhausen, Chris

    2014 - Forschungsinformationssystem des UKE
12. Pseudotumor cerebri bei einem 8 Monate alten Säugling

    1. Brückner, F
    2. Kohl, Bernhard
    3. Tholen, P
    4. Bauer, Angela
    5. Mühlhausen, Chris
    6. Tibussek, Daniel
    7. Püst, Burkhard

    2013 - Forschungsinformationssystem des UKE
13. Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.

    1. Boy, Nikolas
    2. Haege, Gisela
    3. Heringer, Jana
    4. Assmann, Birgit
    5. Mühlhausen, Chris
    6. Ensenauer, Regina
    7. Maier, Esther M

    2013 - Forschungsinformationssystem des UKE
14. 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
15. Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.

    1. Kölker, Stefan
    2. Boy, S P Nikolas
    3. Heringer, Jana
    4. Müller, Edith
    5. Maier, Esther M
    6. Ensenauer, Regina
    7. Mühlhausen, Chris

    2012 - Forschungsinformationssystem des UKE
16. 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
17. Use of guidelines improves the neurological outcome in glutaric aciduria type I.

    1. Heringer, Jana
    2. Boy, S P Nikolas
    3. Ensenauer, Regina
    4. Assmann, Birgit
    5. Zschocke, Johannes
    6. Harting, Inga
    7. Lücke, Thomas

    2010 - Forschungsinformationssystem des UKE
18. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

    1. Harting, Inga
    2. Neumaier-Probst, Eva
    3. Seitz, Angelika
    4. Maier, Esther M
    5. Assmann, Birgit
    6. Baric, Ivo
    7. Troncoso, Monica

    2009 - Forschungsinformationssystem des UKE
19. 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
20. AP-1 and AP-3 mediate sorting of melanosomal and lysosomal membrane proteins into distinct post-Golgi trafficking pathways.

    1. Chapuy, Björn
    2. Tikkanen, Ritva
    3. Mühlhausen, Chris
    4. Wenzel, Dirk
    5. von Figura, Kurt
    6. Höning, Stefan

    2008 - Forschungsinformationssystem des UKE