3 Einträge gefunden

1. Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III

   1. Di Lorenzo, Giorgia
   2. Westermann, Lena M
   3. Schinke, Thorsten
   4. Stürznickel, Julian
   5. Ludwig, Nataniel F
   6. Ammer, Luise S
   7. Baranowsky, Anke

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
2. Combined in-vitro and in-silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta

   1. Danyukova, Tatyana
   2. Ludwig, Nataniel F
   3. Velho, Renata Voltolini
   4. Harms, Frederike L
   5. Güneş, Nilay
   6. Tidow, Henning
   7. Schwartz, Ida V

   2020 - Forschungsinformationssystem des UKE - frei zugänglich
3. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations

   1. Velho, Renata Voltolini
   2. Harms, Frederike L
   3. Danyukova, Tatyana
   4. Ludwig, Nataniel F
   5. Friez, Michael J
   6. Cathey, Sara S
   7. Filocamo, Mirella

   2019 - Forschungsinformationssystem des UKE