11 Einträge gefunden

1. Ocular signs correlate well with disease severity and genotype in Fabry disease

   1. Pitz, Susanne
   2. Kalkum, Gisela
   3. Arash, Laila
   4. Karabul, Nesrin
   5. Sodi, Andrea
   6. Larroque, Sylvain
   7. Beck, Michael

   2015 - Forschungsinformationssystem des UKE - frei zugänglich
2. Diagnosing mucopolysaccharidosis IVA

   1. Wood, Timothy C
   2. Harvey, Katie
   3. Beck, Michael
   4. Burin, Maira Graeff
   5. Chien, Yin-Hsiu
   6. Church, Heather J
   7. D'Almeida, Vânia

   2013 - Forschungsinformationssystem des UKE
3. 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
4. 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
5. Onset and progression of the Anderson-Fabry disease related cardiomyopathy.

   1. Kampmann, Christoph
   2. Linhart, Ales
   3. Baehner, Frank
   4. Palecek, Tomas
   5. Wiethoff, Christiane M
   6. Miebach, Elke
   7. Whybra, Catharina

   2008 - Forschungsinformationssystem des UKE
6. Molecular order in mucolipidosis II and III nomenclature.

   1. Cathey, Sara S
   2. Kudo, Mariko
   3. Stephan, Tiede
   4. Raas-Rothschild, Annick
   5. Braulke, Thomas
   6. Beck, Michael
   7. Taylor, Harold A

   2008 - Forschungsinformationssystem des UKE
7. 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
8. Prevalence of uncontrolled hypertension in patients with Fabry disease.

   1. Kleinert, Julia
   2. Dehout, François
   3. Schwarting, Andreas
   4. Lorenzo, de
   5. García, Abelardo
   6. Ricci, Roberta
   7. Kampmann, Christoph

   2006 - Forschungsinformationssystem des UKE
9. Disease manifestations and X inactivation in heterozygous females with Fabry disease.

   1. Maier, Esther M
   2. Osterrieder, Stephanie
   3. Whybra, Catharina
   4. Ries, Markus
   5. Gal, Andreas
   6. Beck, Michael
   7. Roscher, Adelbert A

   2006 - Forschungsinformationssystem des UKE
10. 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
11. Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey.

    1. Kleinert, Julia
    2. Dehout, François
    3. Schwarting, Andreas
    4. Lorenzo, de
    5. García, Abelardo
    6. Ricci, Roberta
    7. Kampmann, Christoph

    2005 - Forschungsinformationssystem des UKE