6 Einträge gefunden

1. A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

   1. Santer, René
   2. du Moulin, Marcel
   3. Shahinyan, Tatevik
   4. Vater, Inga
   5. Maier, Esther
   6. Muntau, Ania C
   7. Steinmann, Beat

   2016 - Forschungsinformationssystem des UKE - frei zugänglich
2. Phenylketonuria: Direct and indirect effects of phenylalanine

   1. Schlegel, Gudrun
   2. Scholz, Ralf
   3. Ullrich, Kurt
   4. Santer, René
   5. Rune, Gabriele M

   2016 - Forschungsinformationssystem des UKE
3. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

   1. Diez-Fernandez, Carmen
   2. Rüfenacht, Véronique
   3. Santra, Saikat
   4. Lund, Allan M
   5. Santer, René
   6. Lindner, Martin
   7. Tangeraas, Trine

   2016 - Forschungsinformationssystem des UKE
4. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

   1. Sentner, Christiaan P
   2. Hoogeveen, Irene J
   3. Weinstein, David A
   4. Santer, René
   5. Murphy, Elaine
   6. McKiernan, Patrick J
   7. Steuerwald, Ulrike

   2016 - Forschungsinformationssystem des UKE
5. Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature

   1. Ninković, Dorotea
   2. Sarnavka, Vladimir
   3. Bašnec, Anica
   4. Ćuk, Mario
   5. Ramadža, Danijela Petković
   6. Fumić, Ksenija
   7. Kušec, Vesna

   2016 - Forschungsinformationssystem des UKE
6. Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients

   1. Groeschel, Samuel
   2. Kühl, Jörn-Sven
   3. Bley, Annette E
   4. Kehrer, Christiane
   5. Weschke, Bernhard
   6. Döring, Michaela
   7. Böhringer, Judith

   2016 - Forschungsinformationssystem des UKE