Nesrin Karabul: search on Z-Library

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1

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 412 KB

english, 2012

2

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

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,

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 719 KB

english, 2016

3

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

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

Journal:

BMC Ophthalmology

Year:

2016

Language:

english

File:

PDF, 568 KB

english, 2016

4

Treatment of Fabry disease with migalastat - outcome from a prospective observational multicenter study (FAMOUS)

Lenders, Malte, Nordbeck, Peter, Kurschat, Christine, Karabul, Nesrin, Kaufeld, Jessica, Hennermann, Julia B., Patten, Monica, Cybulla, Markus, MÃ¼ntze, Jonas, ÃÃ§eyler, Nurcan, Liu, Dan, Das, Anibh

Journal:

Clinical Pharmacology & Therapeutics

Year:

2020

Language:

english

File:

PDF, 13.53 MB

english, 2020

5

The multi-national experience on long-term enzyme replacement therapy in children with Fabry disease

Lipinski, Shawn, Hebert, Amanda, Taber, Tabitha, Goker-Alpan, Ozlem, Karabul, Nesrin

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 46 KB

english, 2014

6

Thromboembolic events in Fabry disease and the impact of factor V Leiden

Lenders, Malte, Karabul, Nesrin, Duning, Thomas, Schmitz, Boris, Schelleckes, Michael, Mesters, Rolf, Hense, Hans-Werner, Beck, Michael, Brand, Stefan-Martin, Brand, Eva

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 286 KB

english, 2015

7

Ophthalmological manifestations in Fabry disease children in the Fabry Outcome Survey

Karabul, Nesrin, Pitz, Susanne, Kalkum, Gisela, Pintos-Morell, Guillem, Parini, Rossella, Rohrbach, Marianne, Ramaswami, Uma

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 194 KB

english, 2015

8

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

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

Journal:

Drug Design Development and Therapy

Year:

2020

File:

PDF, 2.08 MB

2020

9

Pedigree analysis: A call to action to raise awareness of Fabry disease and the importance of family history evaluation

Karabul, Nesrin, Bradley, Aoife, de Dios García Díaz, Juan, Figuera, Luis, Gal, Andreas, Giugliani, Roberto, Goker-Alpan, Ozlem, Lavery, Christine, Mehta, Atul, Thompson, Lorraine, Sakai, Norio, Warno

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

10

A differential role of CREB phosphorylation in cAMP-inducible gene expression in the rat pineal

Rainer Spessert, Maria Rapp, Holger Jastrow, Nesrin Karabul, Frank Blum, Lutz Vollrath

Journal:

Year:

2000

Language:

english

File:

PDF, 1.38 MB

english, 2000

11

First signs for lysosomal disorders (LD) - kidney ultrasound

Karabul, Nesrin, Atal, Rengi N.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 321 KB

2020

12

Cytokine profiles in Fabry patients

Karabul, Nesrin, Arash, Laila, Kircher, Martina, Beck, Michael, Mengel, Eugen

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

13

Mucopolysaccharidosis Type VII (Sly disease) survivors

Arash, Laila, Karabul, Nesrin, Whybra, Catharina, Kampmann, Christoph, Beck, Michael, Mengel, Eugen

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 55 KB

english, 2013

14

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

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

Journal:

Year:

2019

File:

PDF, 1.32 MB

2019

15

Medical News.

Arash, Laila, Karabul, Nesrin, Whybra, Catharina, Kampmann, Christoph, Beck, Michael, Mengel, Eugen

Journal:

Year:

1882

Language:

english

File:

PDF, 391 KB

english, 1882

16

Particular myosonografie In Pompe disease

Karabul, Nesrin, Goekce, Seyfullah, Beck, Michael, Mengel, Eugen

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 102 KB

english, 2013

17

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

Sólyom, Alexander, Karabul, Nesrin, Hügle, Boris, Simonaro, Calogera, Schuchman, Edward

Journal:

Pediatric Rheumatology

Year:

2014

Language:

english

File:

PDF, 268 KB

english, 2014

18

Longterm renal outcome after 10 years enzyme replacement therapy with agalsidase A in Fabry male patients

Karabul, Nesrin, Arash, Laila, Waechter, Maike, Beck, Michael, Kampmann, Christof, Mengel, Eugen

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 67 KB

english, 2014

19

Treatment and clinical survey of females with Fabry disease in Germany

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,

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

20

Pregnancy and delivery in women with Pompe disease

Karabul, Nesrin, Berndt, Janine, Kornblum, Cornelia, Kley, Rudolf A., Wenninger, S., Tiling, Nikolaus, Mengel, Eugen, Plöckinger, Ursula, Vorgerd, Matthias, Deschauer, Marcus, Schoser, Benedikt, Hanis

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 269 KB

english, 2014

21

Mucopolysaccharidoses and Other Lysosomal Storage Diseases

Lampe, Christina, Bellettato, Cinzia Maria, Karabul, Nesrin, Scarpa, Maurizio

Journal:

Rheumatic Disease Clinics of North America

Year:

2013

Language:

english

File:

PDF, 956 KB

english, 2013

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