14 Einträge gefunden

1. 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
2. Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.

   1. Dajnoki, Angéla
   2. Fekete, György
   3. Keutzer, Joan
   4. Orsini, Joseph J
   5. Jesus, De
   6. Victor, R
   7. Chien, Yin-Hsiu

   2010 - Forschungsinformationssystem des UKE
3. 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
4. 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
5. Pharmacokinetic and pharmacodynamic properties of oral L-citrulline and L-arginine: impact on nitric oxide metabolism.

   1. Schwedhelm, Edzard
   2. Maas, Renke
   3. Freese, Ralf
   4. Jung, Donald
   5. Lukacs, Zoltan
   6. Jambrecina, Alen
   7. Spickler, William

   2008 - Forschungsinformationssystem des UKE
6. International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes.

   1. Khneisser, I
   2. Adib, S
   3. Megarbane, A
   4. Lukacs, Zoltan

   2008 - Forschungsinformationssystem des UKE
7. Membrane translocation of glutaric acid and its derivatives.

   1. Mühlhausen, Chris
   2. Burckhardt, B
   3. Hagos, Y
   4. Burckhardt, G
   5. Keyser, Britta
   6. Lukacs, Zoltan
   7. Ullrich, Kurt

   2008 - Forschungsinformationssystem des UKE
8. Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients.

   1. Lukacs, Zoltan
   2. Hartung, R
   3. Beck, M
   4. Keil, A
   5. Mengel, E

   2007 - Forschungsinformationssystem des UKE
9. Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

   1. Ho, Sirikit
   2. Lukacs, Zoltan
   3. Hoffmann, Georg F
   4. Lindner, Martin
   5. Wetter, Thomas

   2007 - Forschungsinformationssystem des UKE
10. Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up.

    1. Görg, Maria
    2. Wilck, Wanja
    3. Granitzny, Barbara
    4. Suerken, Anne
    5. Lukacs, Zoltan
    6. Ding, Xiaoqi
    7. Schulte-Markwort, Michael

    2007 - Forschungsinformationssystem des UKE
11. Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.

    1. Lukacs, Zoltan
    2. Santer, René

    2006 - Forschungsinformationssystem des UKE
12. Simultaneous determination of HIV antibodies, hepatitis C antibodies, and hepatitis B antigens in dried blood spots--a feasibility study using a multi-analyte immunoassay.

    1. Lukacs, Zoltan
    2. Dietrich, Alexandra
    3. Ganschow, Rainer
    4. Kohlschütter, Alfried
    5. Kruithof, Rudolf

    2005 - Forschungsinformationssystem des UKE
13. Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.

    1. Tsiakas, Kostas Konstantinos
    2. Steinfeld, Robert
    3. Storch, Stephan
    4. Ezaki, Junji
    5. Lukacs, Zoltan
    6. Kominami, Eiki
    7. Kohlschütter, Alfried

    2004 - Forschungsinformationssystem des UKE
14. A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognizing fatty acid oxidation defects in adults.

    1. Kluge, Stefan
    2. Kühnelt, Peter
    3. Block, Andreas
    4. Merkel, Martin
    5. Gocht, Andreas
    6. Lukacs, Zoltan
    7. Kohlschütter, Alfried

    2003 - Forschungsinformationssystem des UKE