4 Einträge gefunden

1. 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
2. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease.

   1. Whybra, Catharina
   2. Miebach, Elke
   3. Mengel, Eugen
   4. Gal, Andreas
   5. Baron, Karin
   6. Beck, Michael
   7. Kampmann, Christoph

   2009 - Forschungsinformationssystem des UKE
3. IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.

   1. Whybra, Catharina
   2. Schwarting, Andreas
   3. Kriegsmann, Jörg
   4. Gal, Andreas
   5. Mengel, Eugen
   6. Kampmann, Christoph
   7. Baehner, Frank

   2006 - Forschungsinformationssystem des UKE
4. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.

   1. Ries, Markus
   2. Schaefer, Ellen
   3. Lührs, Till
   4. Mani, Latha
   5. Kuhn, Jana
   6. Vanier, Marie T
   7. Krummenauer, Frank

   2006 - Forschungsinformationssystem des UKE