N
Nesrin Karabul
Researcher at University of Mainz
Publications - 26
Citations - 873
Nesrin Karabul is an academic researcher from University of Mainz. The author has contributed to research in topics: Enzyme replacement therapy & Fabry disease. The author has an hindex of 14, co-authored 26 publications receiving 676 citations. Previous affiliations of Nesrin Karabul include Boston Children's Hospital & Ruhr University Bochum.
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Journal ArticleDOI
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
Marieke Biegstraaten,Reynir Arngrímsson,Frédéric Barbey,Lut Boks,Franco Cecchi,Patrick Deegan,Ulla Feldt-Rasmussen,Tarekegn Geberhiwot,Dominique P. Germain,Christian J. Hendriksz,Derralynn Hughes,Ilkka Kantola,Nesrin Karabul,Christine Lavery,Gabor E. Linthorst,Atul Mehta,Erica van de Mheen,João Paulo Oliveira,Rossella Parini,Uma Ramaswami,Michael A. Rudnicki,Andreas L. Serra,Claudia Sommer,Gere Sunder-Plassmann,Einar Svarstad,Annelies Sweeb,Wim Terryn,Anna Tylki-Szymańska,Camilla Tøndel,Bojan Vujkovac,Frank Weidemann,Frits A. Wijburg,Peter Woolfson,Carla E. M. Hollak +33 more
TL;DR: In this article, the authors defined European consensus recommendations for the initiation and cessation of Enzyme Replacement Therapy (ERT) in patients with Fabry disease, which may halt or attenuate disease progression.
Journal ArticleDOI
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
Andreas Herzog,R. Hartung,Arnold J. J. Reuser,Pia Hermanns,Heiko Runz,Nesrin Karabul,Seyfullah Gökce,Joachim Pohlenz,Christoph Kampmann,Christina Lampe,Michael Beck,Eugen Mengel +11 more
TL;DR: Disease manifestation strongly correlates with the nature of the GAA mutations, while the variable progression in non-classic Pompe disease is likely to be explained by yet unknown modifying factors.
Journal ArticleDOI
CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy
Kathryn L. Berrier,Zoheb B. Kazi,Sean N. Prater,Deeksha Bali,Jennifer L. Goldstein,Mihaela Stefanescu,Catherine Rehder,Eleanor G. Botha,Carolyn Ellaway,Kaustuv Bhattacharya,Anna Tylki-Szymańska,Nesrin Karabul,Amy S. Rosenburg,Priya S. Kishnani +13 more
TL;DR: Immunological responses are a significant risk in CN IPD; thus induction of immune tolerance in the naive setting should strongly be considered.
Journal ArticleDOI
Sleep-related symptoms and sleep-disordered breathing in adult Pompe disease.
Matthias Boentert,Nesrin Karabul,Stephan Wenninger,B Stubbe-Dräger,Eugen Mengel,Benedikt Schoser,Peter Young +6 more
TL;DR: Sleep‐related symptoms along with motor performance, forced vital capacity (FVC) and respiratory symptoms were investigated in 65 adult patients with Pompe disease.
Book ChapterDOI
Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany
Andreas Hahn,Susanne Praetorius,Nesrin Karabul,Johanna Dießel,Dorle Schmidt,Reinald Motz,Claudia Haase,Martina Baethmann,Julia B. Hennermann,Julia B. Hennermann,Martin Smitka,René Santer,Nicole Muschol,Ann Meyer,Thorsten Marquardt,Martina Huemer,Charlotte Thiels,Marianne Rohrbach,Gökce Seyfullah,Eugen Mengel +19 more
TL;DR: The data suggest that classical infantile Pompe disease still remains a life-threatening condition associated with high morbidity and often dismal prognosis, and a relevant number of patients do not benefit definitely from ERT.