Publikationen Fabry-Zentrum Würzburg (FAZiT)

Müntze J, Lau K, Cybulla M, Brand E, Cairns T, Lorenz L, Üçeyler N, Sommer C, Wanner C, Nordbeck P (2022) Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study.
Molecular Genetics and Metabolism 2023 Feb; 138(2): 106981
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Lau K, Üçeyler N, Cairns T, Lorenz L, Sommer C, Schindehütte M, Amann K, Wanner C, Nordbeck P (2022)
Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly).
Molecular Genetics & Genomic Medicine 2022 May; 10(5): e1912
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Lenders M, Nordbeck P, Kurschat C, Eveslage M, Karabul N, Kaufeld J, Hennermann JB, Patten M, Cybulla M, Müntze J, Üçeyler N, Liu D, Das AM, Sommer C, Pogoda C, Reiermann S, Duning T, Gaedeke J, von Cossel K, Blaschke D, Brand SM, Mann WA, Kampmann C, Muschol N, Canaan-Kühl S, Brand E (2022)
Treatment of Fabry Disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS). 
European Heart Journal of Cardiovascular Pharmacotherapy 2022 May 5; 8(3): 272-281
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Mistry PK, Kishnani P, Wanner C, Dong D, Bender J, Batista JL, Foster J (2022)
Rare lysosomal disease registries: lessons learned over three decades of real-world evidence.
Orphanet Journal of Rare Diseases 2022 Oct 17; 17(1): 362
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Spitzel M, Wagner E, Breyer M, Henniger D, Bayin M, Hofmann L, Mauceri D, Sommer C, Üçeyler N (2022) Dysregulation of Immune Response Mediators and Pain-Related Ion Channels Is Associated with Pain-like Behavior in the GLA KO Mouse Model of Fabry Disease. Cells 2022 May 24; 11(11): 1730
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Tolstik E, Ali N, Guo S, Ebersbach P, Möllmann D, Arias-Loza P, Dierks J, Schuler I, Freier E, Debus J, Baba HA, Nordbeck P, Bocklitz T, Lorenz K (2022)
CARS Imaging Advances Early Diagnosis of Cardiac Manifestation of Fabry Disease.
International Journal of Molecular Sciences 2022 May 11; 23(10): 5345
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Wagenhäuser L, Rickert V, Sommer C, Wanner C, Nordbeck P, Rost S, Üçeyler N (2022)
X-chromosomal inactivation patterns in women with Fabry disease.
Molecular Genetics & Genomic Medicine 2022 Sep; 10(9): e2029
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Wanner C, Feldt-Rasmussen U, Ortiz A (2022)
Plain language summary of a study looking at heart muscle thickness and kidney function in women with Fabry disease who received agalsidase beta treatment. Future Cardiology 2022 Sep; 18(10): 755-763
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Wanner C, Kimonis V, Politei J, Warnock DG, Üçeyler N, Frey A, Cornelisse P, Hughes D (2022)
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study.
Molecular Genetics and Metabolism Reports 2022 Mar 26; 31: 100862.
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Lenders M, Nordbeck P, Canaan-Kühl S, Kreul L, Duning T, Lorenz L, Pogoda C, Brand SM, Wanner C, Brand E (2021)
Treatment switch in Fabry disease- a matter of dose?
Journal of Medical Genetics 2021 May; 58(5): 342-350
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Lenders M, Nordbeck P, Kurschat C, Eveslage M, Karabul N, Kaufeld J, Hennermann JB, Patten M, Cybulla M, Müntze J, Üçeyler N, Liu D, Das AM, Sommer C, Pogoda C, Reiermann S, Duning T, Gaedeke J, von Cossel K, Blaschke D, Brand SM, Alexander Mann W, Kampmann C, Muschol N, Canaan-Kühl S, Brand E (2021)
Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS).
European Heart Journal Cardiovascular Pharmacotherapy 2021 Mar 16: pvab025
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Namdar M, Richardot P, Johner N, Shah D, Nordbeck P, Olivotto I, Macfarlane P (2021)
Recognition of pre-hypertrophic cardiac involvement in Fabry Disease based on automated electrocardiographic measures.
International Journal of Cardiology 2021 Sep 1; 338: 121-126
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Oder D, Müntze J, Nordbeck P (2021)
Contemporary therapeutics and new drug developments for treatment of Fabry disease: a narrative review.
Cardiovascular Diagnosis & Therapy 2021 Apr; 11(2):683-695
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Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, Elliott PM, Hagege A, Kuusisto J, Linhart A, Nordbeck P, Olivotto I, Pietilä-Effati P, Namdar M (2021)
Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week.
Journal of the American College of Cardiology 2021 Feb 23; 77(7): 922-936.
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Germain DP, Oliveira JP, Bichet DG,Yoo H-W, Hopkin RJ, Lemay R, Politei J, Wanner C, Willcox WR, Warnock DG (2020) 
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup.
Journal of Medical Genetics 2020 Aug; 57(8): 542-551
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Jovanovic A, Klassen P, Heuschmann P, Sommer C, Roberts M, Üçeyler N (2020)
English version of the self‑administered Fabry Pain Questionnaire for adult patients.
Orphanet Journal of Rare Diseases 2020 Oct 20; 15(1): 296
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Lenders M, Nordbeck P, Kurschat C, Karabul N, Kaufeld J, Hennermann JB, Patten M, Cybulla M, Müntze J, Üçeyler N, Liu D, Das AM, Sommer C, Pogoda C, Reiermann S, Duning T, Gaedeke J, Stumpfe K, Blaschke D, Brand SM, Mann WA, Kampmann C, Muscho N, Canaan-Kühl S, Brand E (2020)
Treatment of Fabry’s Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)
Clinical Pharmacology and Therapeutics 2020 Aug; 108(2):326-337
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Rickert V, Kramer D, Schubert AL, Sommer C, Wischmeyer E, Üçeyler N (2020)
Globotriaosylceramide-induced reduction of KCa1.1 channel activity and activation of the Notch1 signaling pathway in skin fibroblasts of male Fabry patients with pain. 
Experimental Neurology 2020 Feb; 324:113134  
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Rickert V, Wagenhäuser L, Nordbeck P, Wanner C, Sommer C, Rost S, Üçeyler N (2020)
Stratification of Fabry mutations in clinical practice: acloser look at a-galactosidase A-3D structure. 
Journal of Internal Medicine 2020 Nov; 288(5): 593-604 
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van der Veen SJ, Vlietstra  WJ, van Dussen L, van Kuilenburg ABP, Dijkgraaf MGW, Lenders M, Brand E, Wanner E, Hughes D, Elliott PM, Hollak CEM, Langeveld M (2020) 
Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.
Internal Journal of Molecular Sciences 2020 Aug 12; 21(16): 5784
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Wanner C, Feldt-Rasmussen U, Jovanovic A, Linhart A, Yang M, Ponce E, Brand E, Germain DP, Hughes DA, Jefferies JL, Martins AM, Nowak A, Vujkova B, Weidemann F, West ML, Ortiz A (2020)
Cardiomyopathy and kidney function in agalsidase beta-treated female Fabry patients: a pre-treatment vs. post-treatment analysis.
ESC Heart Failure 2020 Jun; 7(3): 825-834
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Cairns T, Wanner C (2019)
Will the FAbry STabilization indEX make its way to everyday clinical practice?
Clinical Kidney Journal 2019 Feb; 12(1): 61-64 
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Elliott PM, Germain DP, Hilz MJ, Spada M, Wanner C, Falissard B (2019) 
Why systematic literature reviews in Fabry disease should include all published evidence.
European Journal of Medical Genetics 2019 Oct; 62(10):103702 
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Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, Hilz MJ, Hughes DA, Ortiz A, Wanner C, Weidemann F, Spada M (2019) 
The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease – A systematic literature review by a European panel of experts.
Molecular Genetics and Metabolism 2019 Mar; 126(3): 224-235 
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Germain DP, Elliott PM, Falissard B, Fomin VV, Hilz MJ, Jovanovic A, Kantola I, Linhart A, Mignani R, Namdar M, Nowak A, Oliveira JP, Pieroni M, Viana-Baptista M, Wanner C, Spada M (2019) 
The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts.
Molecular Genetics and Metabolism Reports 2019 Feb 6; 19: 100454
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Germain DP, Falissard B, Hilz MJ, Spada M, Wanner C, Elliott PM (2019) 
Response to Gurevich and colleagues: The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: a systematic literature review by a European panel of experts.
Molecular Genetics Metabolism Reports 2019 Jul 22; 20:100493
No abstract available. 
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Müntze J, Gensler D, Maniuc O, Liu D, Cairns T, Oder D, Hu K, Lorenz K, Frantz S, Wanner C, Nordbeck P (2019)
Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year.
Clinical Pharmacology & Therapeutics 2019 May; 105(5): 1224-1233. 
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Müntze J, Nordbeck P (2019) 
Response to "Oral Chaperone Therapy Migalastat for the Treatment of Fabry Disease: Potentials and Pitfalls of Real-World Data".
Clinical Pharmacology & Therapeutics 2019 Nov; 106(5): 927-928.
No abstract available.
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Siedler G, Káhn AK, Weidemann F, Wanner C, Sommer C, Üçeyler N (2019) 
Dyshidrosis is associated with reduced amplitudes in electrically evoked pain-related potentials in women with Fabry disease.
Clinical Neurophysiology 2019 Apr; 130(4): 528-536. 
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Üçeyler N, Urlaub D, Mayer C, Uehlein S, Held M, Sommer C (2019) 
Tumor necrosis factor-α links heat and inflammation with Fabry pain.
Molecular Genetics and Metabolism 2019 Jul; 127(3): 200-206
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Weidemann F, Beer M, Kralewski M, Siwy J, Kampmann C (2019) 
Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study.
Molecular Genetics and Metabolism 2019 Feb; 126(2):169-182. 
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Xiao K, Lu D, Hoepfner J, Santer L, Gupta S, Pfanne A, Thum S, Lenders M, Brand E, Nordbeck P, Thum T (2019) 
Circulating microRNAs in Fabry Disease.
Scientific Reports 2019 Oct 24; 9(1): 15277
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