5 Einträge gefunden

1. Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant

   1. Albers, Kirstin
   2. Schlein, Christian
   3. Wenner, Kirsten
   4. Lohse, Peter
   5. Bartelt, Alexander
   6. Heeren, Joerg
   7. Santer, René

   2014 - Forschungsinformationssystem des UKE
2. Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

   1. Cobos, Paulina Nieves
   2. Steglich, Cordula
   3. Santer, René
   4. Lukacs, Zoltan
   5. Gal, Andreas

   2014 - Forschungsinformationssystem des UKE - frei zugänglich
3. Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation

   1. Fortugno, Paola
   2. Josselin, Emmanuelle
   3. Tsiakas, Konstantinos
   4. Agolini, Emanuele
   5. Cestra, Gianluca
   6. Teson, Massimo
   7. Santer, René

   2014 - Forschungsinformationssystem des UKE
4. 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
5. Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature

   1. Grabhorn, Enke
   2. Tsiakas, Konstantinos
   3. Herden, Uta
   4. Fischer, Lutz
   5. Freisinger, Peter
   6. Marquardt, Thorsten
   7. Ganschow, Rainer

   2014 - Forschungsinformationssystem des UKE