9 Einträge gefunden

1. Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene

   1. Förster, Luise
   2. Tiede, Stephan
   3. Rudolph, Cornelia
   4. Muschol, Nicole M.

   2023 - Forschungsinformationssystem des UKE
2. Combination of high-dose ambroxol and ERT in Gaucher disease type 2: A nearly age-appropriate neurocognitive and motor development after three years of treatment

   1. Aries, Charlotte
   2. Lohmöller, Benjamin
   3. Tiede, Stephan
   4. Täuber, Karolin
   5. Rudolph, Cornelia
   6. Muschol, Nicole

   2022 - Forschungsinformationssystem des UKE
3. Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2

   1. Aries, Charlotte
   2. Lohmöller, Benjamin
   3. Tiede, Stephan
   4. Täuber, Karolin
   5. Hartmann, Guido
   6. Rudolph, Cornelia
   7. Muschol, Nicole Maria

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
4. UDP-GlcNAc-1-phosphotransferase is a clinically important regulator of human and mouse hair pigmentation

   1. Tiede, Stephan
   2. Hundt, Jennifer
   3. Paus, Ralf

   2021 - Forschungsinformationssystem des UKE
5. Human epithelial stem cell survival within their niche requires "tonic" cannabinoid receptor 1-signalling-Lessons from the hair follicle

   1. Sugawara, Koji
   2. Zákány, Nóra
   3. Tiede, Stephan
   4. Purba, Talveen
   5. Harries, Matthew
   6. Tsuruta, Daisuke
   7. Bíró, Tamás

   2021 - Forschungsinformationssystem des UKE
6. Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking

   1. Schmidtke, Carolin
   2. Tiede, Stephan
   3. Thelen, Melanie
   4. Käkelä, Reijo
   5. Jabs, Sabrina
   6. Makrypidi, Georgia
   7. Sylvester, Marc

   2019 - Forschungsinformationssystem des UKE
7. 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
8. Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.

   1. Pohl, Sandra
   2. Tiede, Stephan
   3. Castrichini, Monica
   4. Cantz, Michael
   5. Gieselmann, Volkmar
   6. Braulke, Thomas

   2009 - Forschungsinformationssystem des UKE
9. Synthese des Mannose-6-Phosphat-Erkennungsmarkers lysosomaler Enzyme : Molekulare Analyse der humanen UDP-N-Acetylglucosamin:lysosomales Enzym-N-Acetylglucosamin-1-Phosphotransferase

   1. Tiede, Stephan

   2005 - E-Dissertationen der UHH - frei zugänglich