53 Einträge gefunden

1. Leitsymptomvorlesungen im klinischen Studienabschnitt - Effekte evaluationsbasierter Interventionen auf eine Großgruppen-Lehrveranstaltung

   1. Kuhnigk, Olaf
   2. Weidtmann, K
   3. Anders, Sven
   4. Hüneke, Bernd
   5. Santer, René
   6. Harendza, Sigrid

   2011 - Forschungsinformationssystem des UKE
2. Neonatal cholestasis in glucose-6-phosphate dehydrogenase deficiency.

   1. Kordes, Uwe
   2. Briem-Richter, Andrea
   3. Santer, René
   4. Schäfer, Hansjörg
   5. Singer, Dominique
   6. Sonntag, J
   7. Steuerwald, U

   2010 - Forschungsinformationssystem des UKE
3. Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.

   1. Santer, René
   2. Calado, Joaquim

   2010 - Forschungsinformationssystem des UKE
4. Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.

   1. Kordes, Uwe
   2. Briem-Richter, Andrea
   3. Santer, René
   4. Schäfer, Hansjörg
   5. Singer, Dominique
   6. Sonntag, Josef
   7. Steuerwald, Ulrike

   2010 - Forschungsinformationssystem des UKE
5. Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.

   1. Spiekerkoetter, Ute
   2. Haussmann, Ulrike
   3. Mueller, Martina
   4. Frank, Ter Veld
   5. Stehn, Maren
   6. Santer, René
   7. Lukacs, Zoltan

   2010 - Forschungsinformationssystem des UKE
6. Computer simulations suggest that acute correction of hyperglycaemia with an insulin bolus protocol might be useful in brain FDG PET.

   1. Buchert, Ralph
   2. Santer, René
   3. Brenner, Winfried
   4. Apostolova, Ivalya
   5. Mester, Janos
   6. Clausen, M
   7. Silverman, D H S

   2009 - Forschungsinformationssystem des UKE
7. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.

   1. Spiekerkoetter, U
   2. Lindner, M
   3. Santer, René
   4. Grotzke, M
   5. Baumgartner, M
   6. Boehles, H
   7. Das, A

   2009 - Forschungsinformationssystem des UKE
8. Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.

   1. Spiekerkoetter, U
   2. Lindner, M
   3. Santer, René
   4. Grotzke, M
   5. Baumgartner, M
   6. Boehles, H
   7. Das, A

   2009 - Forschungsinformationssystem des UKE
9. Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status.

   1. Kohlschütter, B
   2. Ellerbrok, M
   3. Merkel, Martin
   4. Tchirikov, M
   5. Zschocke, J
   6. Santer, René
   7. Ullrich, Kurt

   2009 - Forschungsinformationssystem des UKE
10. Dystonia and deafness due to SUCLA2 defect: clinical course and biochemical markers in 16 children

    1. Morava, E
    2. Steuerwald, U
    3. Carrozzo, R
    4. Kluijtmans, LA
    5. Joensen, F
    6. Santer, René
    7. Dionisi-Vici, C

    2009 - Forschungsinformationssystem des UKE
11. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.

    1. Lukacs, Zoltan
    2. Paulina, Nieves Cobos
    3. Mengel, Eugen
    4. Hartung, Ralf
    5. Beck, Michael
    6. Deschauer, Marcus
    7. Keil, Angelika

    2009 - Forschungsinformationssystem des UKE
12. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

    1. Spinazzola, Antonella
    2. Santer, René
    3. Akman, Orhan H
    4. Tsiakas, Kostas Konstantinos
    5. Schaefer, Hansjoerg
    6. Ding, Xiaoqi
    7. Karadimas, Charalampos L

    2008 - Forschungsinformationssystem des UKE
13. High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria.

    1. Schumacher, Udo
    2. Lukacs, Zoltan
    3. Kaltschmidt, Christian
    4. Freudlsperger, Christian
    5. Schulz, Dorothea
    6. Kompisch, Kai
    7. Müller, Reinhard

    2008 - Forschungsinformationssystem des UKE
14. Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

    1. Jäggi, Leandra
    2. Zurflüh, Marcel R
    3. Schuler, Agnes
    4. Ponzone, Alberto
    5. Porta, Francesco
    6. Fiori, Laura
    7. Giovannini, Marcello

    2008 - Forschungsinformationssystem des UKE
15. Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.

    1. Engel, Katharina
    2. Nuoffer, Jean-Marc
    3. Mühlhausen, Chris
    4. Klaus, Vera
    5. Largiadèr, Carlo R
    6. Tsiakas, Kostas Konstantinos
    7. Santer, René

    2008 - Forschungsinformationssystem des UKE
16. Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis.

    1. Prietsch, V
    2. Arnold, S
    3. Kraegeloh-Mann, I
    4. Kuehr, J
    5. Santer, René

    2008 - Forschungsinformationssystem des UKE
17. High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.

    1. Schilling, Arndt
    2. Mülhausen, C
    3. Lehmann, Wolfgang
    4. Santer, René
    5. Schinke, Thorsten
    6. Rueger, Johannes Maria
    7. Amling, Michael

    2007 - Forschungsinformationssystem des UKE
18. Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.

    1. Hoffman, T L
    2. Blanco, E
    3. Lane, A
    4. Galvin-Parton, P
    5. Gadi, I
    6. Santer, René
    7. DeLeón, D

    2007 - Forschungsinformationssystem des UKE
19. Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.

    1. Paesold-Burda, P
    2. Baumgartner, M R
    3. Santer, René
    4. Bosshard, N U
    5. Steinmann, B

    2007 - Forschungsinformationssystem des UKE
20. Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.

    1. Hartwig, Christine
    2. Gal, Andreas
    3. Santer, René
    4. Ullrich, Kurt
    5. Finckh, Ulrich
    6. Kreienkamp, Hans-Jürgen

    2006 - Forschungsinformationssystem des UKE