9 Einträge gefunden

1. Diagnostik und Therapie des Morbus Pompe im Kindesalter, Diagnosis and Care of Infants and Children with Pompe Disease

   1. Hahn, Andreas
   2. Hennermann, Julia B
   3. Huemer, Martina
   4. Kampmann, Christoph
   5. Marquardt, Thorsten
   6. Mengel, Eugen
   7. Müller-Felber, Wolfgang

   2020 - Forschungsinformationssystem des UKE
2. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

   1. Wasserstein, Melissa
   2. Dionisi-Vici, Carlo
   3. Giugliani, Roberto
   4. Hwu, Wuh-Liang
   5. Lidove, Olivier
   6. Lukacs, Zoltan
   7. Mengel, Eugen

   2019 - Forschungsinformationssystem des UKE
3. Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study

   1. Harmatz, Paul R
   2. Mengel, Eugen
   3. Geberhiwot, Tarekegn
   4. Muschol, Nicole Maria
   5. Hendriksz, Christian J
   6. Burton, Barbara K
   7. Jameson, Elisabeth

   2017 - Forschungsinformationssystem des UKE
4. Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

   1. Hendriksz, Christian J
   2. Giugliani, Roberto
   3. Harmatz, Paul
   4. Mengel, Eugen
   5. Guffon, Nathalie
   6. Valayannopoulos, Vassili
   7. Parini, Rossella

   2015 - Forschungsinformationssystem des UKE
5. 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
6. 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
7. Reduced cerebral fluoro-L-dopamine uptake in adult patients suffering from phenylketonuria.

   1. Landvogt, Christian
   2. Mengel, Eugen
   3. Bartenstein, Peter
   4. Buchholz, Hans Georg
   5. Schreckenberger, Mathias
   6. Siessmeier, Thomas
   7. Scheurich, Armin

   2008 - Forschungsinformationssystem des UKE
8. 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
9. 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