6 Einträge gefunden

1. Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.

   1. Santer, René
   2. Fingerhut, Ralph
   3. Lässker, Uta
   4. Wightman, Patrick J
   5. Fitzpatrick, David R
   6. Olgemöller, Bernhard
   7. Roscher, Adelbert A

   2003 - Forschungsinformationssystem des UKE
2. Molecular analysis of the SGLT2 gene in patients with renal glucosuria.

   1. Santer, René
   2. Kinner, Martina
   3. Lassen, Christoph L
   4. Schneppenheim, Reinhard
   5. Eggert, Paul
   6. Bald, Martin
   7. Brodehl, Johannes

   2003 - Forschungsinformationssystem des UKE
3. Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.

   1. Santer, René
   2. Hillebrand, Georg
   3. Steinmann, Beat
   4. Schaub, Jürgen

   2003 - Forschungsinformationssystem des UKE
4. MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

   1. Wightman, P J
   2. Santer, René
   3. Ribes, A
   4. Dougherty, F
   5. McGill, N
   6. Thorburn, D R
   7. FitzPatrick, D R

   2003 - Forschungsinformationssystem des UKE
5. Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.

   1. Santer, René
   2. Muhle, H
   3. Suormala, T
   4. Baumgartner, E R
   5. Duran, M
   6. Yang, X
   7. Aoki, Y

   2003 - Forschungsinformationssystem des UKE
6. Neutrophil aggregates in a 13-year-old girl: a rare hematological phenomenon.

   1. Claviez, A
   2. Horst, H-A
   3. Santer, René
   4. Suttorp, M

   2003 - Forschungsinformationssystem des UKE