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Medientyp
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Erscheinungsjahr
Autor/in
- Mühlhausen, Chris
- Braulke, Thomas 10
- Ullrich, Kurt 9
- Maier, Esther M 6
- Hoffmann, Georg F 5
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27 Einträge gefunden
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Exom-Sequenzierung bei Kindern:Ungeklärte Entwicklungsstörungen und neurologische Erkrankungen, Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
- Mahler, Elisa A
- Johannsen, Jessika
- Tsiakas, Konstantinos
- Kloth, Katja
- Lüttgen, Sabine
- Mühlhausen, Chris
- Alhaddad, Bader
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Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation, and mitochondria architecture
- Schmiesing, Jessica
- Lohmöller, Benjamin
- Schweizer, Michaela
- Tidow, Henning
- Gersting, Søren W
- Muntau, Ania C
- Braulke, Thomas
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Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents
- Zeltner, Nina A
- Landolt, Markus A
- Baumgartner, Matthias R
- Lageder, Sarah
- Quitmann, Julia
- Sommer, Rachel
- Karall, Daniela
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Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
- Jamiolkowski, Dagmar
- Kölker, Stefan
- Glahn, Esther M
- Barić, Ivo
- Zeman, Jiri
- Baumgartner, Matthias R
- Mühlhausen, Chris
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Spezifische Symptomkombination der chronischen Quecksilberintoxikation: Arterielle Hypertension, Entwicklungsregression und Automutilation
- Hermann, Katharina
- Varwig-Janßen, Domenica
- Budnik, Lygia Therese
- Nordholt, Gerhard
- Reinshagen, Konrad
- Oh, Jun
- Santer, Rene
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Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins
2014 - Forschungsinformationssystem des UKE - frei zugänglich -
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Neonatale Stoffwechselentgleisung: Hyperventilation bei Hyperammoniämie
- Kehl, Torben
- Tsiakas, Konstantinos
- Mühlhausen, Chris
- Santer, Rene
- C, Walter,
- Dr. von der Wense, Axel
- Singer, Dominique
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Ambient-und Biomonitoring nach Quecksilberintoxikation
- Budnik, Lygia Therese
- Hermann, Katharina
- Preisser, Alexandra Marita
- Nordholt, Gerhard
- Harth, Volker
- Mühlhausen, Chris
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Pseudotumor cerebri bei einem 8 Monate alten Säugling
- Brückner, F
- Kohl, Bernhard
- Tholen, P
- Bauer, Angela
- Mühlhausen, Chris
- Tibussek, Daniel
- Püst, Burkhard
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Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
- Kölker, Stefan
- Boy, S P Nikolas
- Heringer, Jana
- Müller, Edith
- Maier, Esther M
- Ensenauer, Regina
- Mühlhausen, Chris
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Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
2011 - Forschungsinformationssystem des UKE -
Use of guidelines improves the neurological outcome in glutaric aciduria type I.
- Heringer, Jana
- Boy, S P Nikolas
- Ensenauer, Regina
- Assmann, Birgit
- Zschocke, Johannes
- Harting, Inga
- Lücke, Thomas
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Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
- Harting, Inga
- Neumaier-Probst, Eva
- Seitz, Angelika
- Maier, Esther M
- Assmann, Birgit
- Baric, Ivo
- Troncoso, Monica
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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