9 Einträge gefunden

1. Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

   1. Lukacs, Zoltan
   2. Nickel, Miriam
   3. Murko, Simona
   4. Nieves Cobos, Paulina
   5. Schulz, Angela
   6. Santer, René
   7. Kohlschütter, Alfried

   2019 - Forschungsinformationssystem des UKE
2. 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
3. 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
4. A child with night blindness: preventing serious symptoms of Refsum disease.

   1. Kohlschütter, Alfried
   2. Santer, René
   3. Lukacs, Zoltan
   4. Altenburg, Christiane
   5. Kemper, Markus J.
   6. Rüther, Klaus

   2012 - Forschungsinformationssystem des UKE
5. Dried blood spots in the diagnosis of lysosomal storage disorders--possibilities for newborn screening and high-risk population screening.

   1. Lukacs, Zoltan
   2. Nieves Cobos, Paulina Alexandra
   3. Keil, Angelika
   4. Hartung, R
   5. Mengel, E
   6. Beck, M
   7. Deschauer, M

   2011 - Forschungsinformationssystem des UKE
6. 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
7. 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
8. 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
9. 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