Home treatment for lysosomal diseases during COVID-19: German experience

por Karabul, Nesrin, Rose, Frank, Cipra, Gabriella
Publicado 2021

Polyarticular arthritis as presenting feature of farber disease: a lysosomal storage disease involving inflammation

por Sólyom, Alexander, Karabul, Nesrin, Hügle, Boris, Simonaro, Calogera, Schuchman, Edward
Publicado 2014

Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease

por Pitz, Susanne, Kalkum, Gisela, Arash, Laila, Karabul, Nesrin, Sodi, Andrea, Larroque, Sylvain, Beck, Michael, Gal, Andreas
Publicado 2015

Paediatric Fabry disease: prognostic significance of ocular changes for disease severity

por Kalkum, Gisela, Pitz, Susanne, Karabul, Nesrin, Beck, Michael, Pintos-Morell, Guillem, Parini, Rossella, Rohrbach, Marianne, Bizjajeva, Svetlana, Ramaswami, Uma
Publicado 2016

Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age

por Parini, Rossella, Pintos-Morell, Guillem, Hennermann, Julia B, Hsu, Ting-Rong, Karabul, Nesrin, Kalampoki, Vasiliki, Gurevich, Andrey, Ramaswami, Uma
Publicado 2020

Dose Responsive Effects of Subcutaneous Pentosan Polysulfate Injection in Mucopolysaccharidosis Type VI Rats and Comparison to Oral Treatment

por Frohbergh, Michael, Ge, Yi, Meng, Fanli, Karabul, Nesrin, Solyom, Alexander, Lai, Alon, Iatridis, James, Schuchman, Edward H., Simonaro, Calogera M.
Publicado 2014

Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey

por Lagler, Florian B., Moder, Angelika, Rohrbach, Marianne, Hennermann, Julia, Mengel, Eugen, Gökce, Seyfullah, Hundsberger, Thomas, Rösler, Kai M., Karabul, Nesrin, Huemer, Martina
Publicado 2019

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

por Herzog, Andreas, Hartung, Ralf, Reuser, Arnold J J, Hermanns, Pia, Runz, Heiko, Karabul, Nesrin, Gökce, Seyfullah, Pohlenz, Joachim, Kampmann, Christoph, Lampe, Christina, Beck, Michael, Mengel, Eugen
Publicado 2012

CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy

por Berrier, Kathryn L., Kazi, Zoheb B., Prater, Sean N., Bali, Deeksha S., Goldstein, Jennifer, Stefanescu, Mihaela C., Rehder, Catherine W., Botha, Eleanor G., Ellaway, Carolyn, Bhattacharya, Kaustuv, Tylki-Szymanska, Anna, Karabul, Nesrin, Rosenburg, Amy S., Kishnani, Priya S.
Publicado 2015

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease

por Lenders, Malte, Hennermann, Julia B., Kurschat, Christine, Rolfs, Arndt, Canaan-Kühl, Sima, Sommer, Claudia, Üçeyler, Nurcan, Kampmann, Christoph, Karabul, Nesrin, Giese, Anne-Katrin, Duning, Thomas, Stypmann, Jörg, Krämer, Johannes, Weidemann, Frank, Brand, Stefan-Martin, Wanner, Christoph, Brand, Eva
Publicado 2016

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

por Biegstraaten, Marieke, Arngrímsson, Reynir, Barbey, Frederic, Boks, Lut, Cecchi, Franco, Deegan, Patrick B, Feldt-Rasmussen, Ulla, Geberhiwot, Tarekegn, Germain, Dominique P, Hendriksz, Chris, Hughes, Derralynn A, Kantola, Ilkka, Karabul, Nesrin, Lavery, Christine, Linthorst, Gabor E, Mehta, Atul, van de Mheen, Erica, Oliveira, João P, Parini, Rossella, Ramaswami, Uma, Rudnicki, Michael, Serra, Andreas, Sommer, Claudia, Sunder-Plassmann, Gere, Svarstad, Einar, Sweeb, Annelies, Terryn, Wim, Tylki-Szymanska, Anna, Tøndel, Camilla, Vujkovac, Bojan, Weidemann, Frank, Wijburg, Frits A, Woolfson, Peter, Hollak, Carla EM
Publicado 2015