Facetten
Zugriff
Einrichtung
Medientyp
- Text 23
Karte
Erscheinungsjahr
Autor/in
- Ullrich, Kurt
- Braulke, Thomas 12
- Mühlhausen, Chris 9
- Muschol, Nicole 6
- Santer, René 5
- alle zeigen
Sprache
23 Einträge gefunden
-
-
Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
- Muschol, Nicole M
- Pape, Daniel
- Kossow, Kai
- Ullrich, Kurt
- Arash-Kaps, Laila
- Hennermann, Julia B
- Stücker, Ralf
-
Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation
2016 - Forschungsinformationssystem des UKE - frei zugänglich -
Phenylketonuria: Direct and indirect effects of phenylalanine
2016 - Forschungsinformationssystem des UKE -
Hippocampal synaptic connectivity in phenylketonuria
- Horling, Katja
- Schlegel, Gudrun
- Schulz, Sarah
- Vierk, Ricardo
- Ullrich, Kurt
- Santer, Rene
- Rune, Gabriele
-
-
Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins
2014 - Forschungsinformationssystem des UKE - frei zugänglich -
-
Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
2011 - Forschungsinformationssystem des UKE -
Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.
- Lebrun, Anne-Hélène
- Moll-Khasrawi, Parisa
- Pohl, Sandra
- Makrypidi, Georgia
- Storch, Stephan
- Kilian, Dirk
- Streichert, Thomas
-
-
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
-
Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status.
2009 - Forschungsinformationssystem des UKE -
-
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
-
MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients.
- Ding, Xiao-Qi
- Fiehler, Jens
- Kohlschütter, Brigitte
- Wittkugel, Oliver
- Grzyska, Ulrich
- Zeumer, Hermann
- Ullrich, Kurt
-
High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria.
- Schumacher, Udo
- Lukacs, Zoltan
- Kaltschmidt, Christian
- Freudlsperger, Christian
- Schulz, Dorothea
- Kompisch, Kai
- Müller, Reinhard
-
Membrane translocation of glutaric acid and its derivatives.
2008 - Forschungsinformationssystem des UKE -
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
2007 - Forschungsinformationssystem des UKE -