Publikationen von FAZiT

Die intensive Forschungstätigkeit des Fabry-Zentrums Würzburg (FAZiT) spiegelt sich in mehr als 150 wissenschaftlichen Publikationen sowie in zahlreichen Promotionsthemen über die Krankheit Morbus Fabry wider.

Publikationen 2020

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.
J Med Genet. 2020 Aug; 57(8):542-
551. doi: 10.1136/jmedgenet-2019-106467. 
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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 
J Rare Dis. 2020 Oct 20;15(1):296. doi: 10.1186/s13023-020-01580-9.
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Lenders M, Nordbeck P, Canaan-Kühl S, Kreul L, Duning T, Lorenz L, Pogoda C, Brand S-M, Wanner C, Brand E (2020) 
Treatment switch in Fabry disease- a matter of dose?
J Med Genet. 10 June 2020. doi: 10.1136/jmedgenet-2020-106874.
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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).
Clin Pharmacol Ther. 2020 Aug; 108(2):326-337 doi: 10.1002/cpt.1832. 
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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. 
Exp Neurol. 2020 Feb; 324:113134. doi: 10.1016/j.expneurol.2019.113134.  
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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. 
J Intern Med. 2020 Nov; 288(5):593-604. doi: 10.1111/joim.13125. 
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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 DiseaseInt
J Mol Sci. 2020 Aug 12; 21(16):5784. doi: 10.3390/ijms21165784.
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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 Fail. 2020 Jun; 7(3):825-834 doi: 10.1002/ehf2.12647.
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Publikationen 2019

Cairns T, Wanner C (2019)
Will the FAbry STabilization indEX make its way to everyday clinical practice?
Clin Kidney J. 2019 Feb; 12(1):61-64. doi: 10.1093/ckj/sfy126. 
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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.
Eur J Med Genet. 2019 Oct; 62(10):103702. doi: 10.1016/j.ejmg.2019.103702. 
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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.
Mol Genet Metab. 2019 Mar; 126(3):224-235. doi: 10.1016/j.ymgme.2018.09.007. 
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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.
Mol Genet Metab Rep. 2019 Feb 6; 19:100454. doi: 10.1016/j.ymgmr.2019.100454. Review.
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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.
Mol Genet Metab Rep. 2019 Jul 22; 20:100493. doi: 10.1016/j.ymgmr.2019.100493.
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.
Clin Pharmacol Ther. 2019 May; 105(5):1224-1233. doi: 10.1002/cpt.1321. 
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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".
Clin Pharmacol Ther. 2019 Nov; 106(5):927-928. doi: 10.1002/cpt.1533.
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.
Clin Neurophysiol. 2019 Apr; 130(4):528-536. doi: 10.1016/j.clinph.2019.01.008. 
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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.
Mol Genet Metab. 2019 Jul; 127(3):200-206. doi: 10.1016/j.ymgme.2019.05.009. PMID: 31221509
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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.Mol Genet Metab. 2019 Feb; 126(2):169-182. doi: 10.1016/j.ymgme.2018.11.005. 
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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.Sci Rep. 2019 Oct 24; 9(1):15277. doi: 10.1038/s41598-019-51805-6.
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Publikationen 2018

Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, Oder D, Watkinson OT, Bichet DG, Khan A, Iwanochko M, Vaz FM, van Kuilenburg ABP, West ML, Hughes DA, Hollak CEM (2018)
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.
J Med Genet. 2018 May; 55(5):351-358. doi: 10.1136/jmedgenet-2017-104863. 
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Cairns T, Müntze J, Gernert J, Spingler L, Nordbeck P, Wanner C (2018) 
Hot topics in Fabry disease.
Postgrad Med J. 2018 Dec;94(1118):709-713. doi: 10.1136/postgradmedj-2018-136056. Review.
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Germain DP, Brand E, Burlina A, Cecchi F, Garman SC, Kempf J, Laney DA, Linhart A, Maródi L, Nicholls K, Ortiz A, Pieruzzi F, Shankar SP, Waldek S, Wanner C, Jovanovic A (2018) 
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
Mol Genet Genomic Med. 2018 Apr 12. doi: 10.1002/mgg3.389. [Epub ahead of print]
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Guérard N, Oder D, Nordbeck P, Zwingelstein C, Morand O, Welford RWD, Dingemanse J, Wanner C (2018) 
Lucerastat, an Iminosugar for Substrate Reduction Therapy: Tolerability, Pharmacodynamics, and Pharmacokinetics in Patients With Fabry Disease on Enzyme Replacement.
Clin Pharmacol Ther. 2018 Apr; 103(4):703-711. doi: 10.1002/cpt.790. 
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Hofmann L, Hose D, Grießhammer A, Blum R, Döring F, Dib-Hajj S, Waxman S, Sommer C, Wischmeyer E, Üçeyler N (2018) 
Characterization of small fiber pathology in a mouse model of Fabry disease.
Elife. 2018 Oct 17; 7. pii: e39300. doi: 10.7554/eLife.39300.PMID: 30328411.
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Klein T, Günther K, Kwok CK, Edenhofer F, Üçeyler N (2018) 
Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene.
Stem Cell Res. 2018 Aug; 31:222-226. doi: 10.1016/j.scr.2018.08.009. 
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Köping M, Shehata-Dieler W, Schneider D, Cebulla M, Oder D, Müntze J, Nordbeck P, Wanner C, Hagen R, Schraven SP (2018) 
Characterization of vertigo and hearing loss in patients with Fabry disease.
Orphanet J Rare Dis. 2018 Aug 15; 13(1):137. doi: 10.1186/s13023-018-0882-7
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Kokotis P, Üçeyler N, Werner C, Tsivgoulis G, Papanikola N, Katsanos AH, Karandreas N, Sommer C (2018) 
Quantification of sweat gland innervation in patients with Fabry disease: A case-control study.
J Neurol Sci. 2018 Jul 15; 390:135-138. doi: 10.1016/j.jns.2018.04.035.
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Krämer J, Lenders M, Canaan-Kühl S, Nordbeck P, Üçeyler N, Blaschke D, Duning T, Reiermann S, Stypmann J, Brand SM, Gottschling T, Störk S, Wanner C, Sommer C, Brand E, Weidemann F (2018) 
Fabry disease under enzyme replacement therapy-new insights in efficacy of different dosages.
Nephrol Dial Transplant. 2018 Aug 1; 33(8):1362-1372. doi: 10.1093/ndt/gfx319.
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Lenders M, Neußer LP, Rudnicki M, Nordbeck P, Canaan-Kühl S, Nowak A, Cybulla M, Schmitz B, Lukas J, Wanner C, Brand SM, Brand E (2018) 
Dose-Dependent Effect of Enzyme Replacement Therapy on Neutralizing Antidrug Antibody Titers and Clinical Outcome in Patients with Fabry Disease.
J Am Soc Nephrol. 2018 Dec; 29(12):2879-2889. doi: 10.1681/ASN.2018070740.
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Liu D, Hu K, Schmidt M, Müntze J, Maniuc O, Gensler D, Oder D, Salinger T, Weidemann F, Ertl G, Frantz S, Wanner C, Nordbeck P (2018) 
Value of the CHA2DS2-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation.
Clin Res Cardiol. 2018 Dec;107 (12):1111-1121. doi: 10.1007/s00392-018-1285-4. 
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Liu D, Oder D, Salinger T, Hu K, Müntze J, Weidemann F, Herrmann S, Ertl G, Wanner C, Frantz S, Störk S, Nordbeck P (2018) 
Association and diagnostic utility of diastolic dysfunction and myocardial fibrosis in patients with Fabry disease.
Open Heart. 2018 Jul 12;5(2):e000803. doi: 10.1136/openhrt-2018-000803.
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Müntze J, Salinger T, Gensler D, Wanner C, Nordbeck P (2018) 
Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy.
Eur Heart J. 2018 May 21; 39(20):1861-1862. doi: 10.1093/eurheartj/ehy072.
No abstract available.
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Oder D, Liu D, Üçeyler N, Sommer C, Hu K, Salinger T, Müntze J, Petritsch B, Ertl G, Wanner C, Nordbeck P, Weidemann F (2018) 
Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study.
Medicine (Baltimore). 2018 May; 97(21):e10669. doi: 10.1097/MD.0000000000010669.
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Oder D, Wanner C, Nordbeck P (2018) 
Letter by Oder et al Regarding Article, "Early Cardiac Involvement Affects Left Ventricular Longitudinal Function in Females Carrying α-Galactosidase A Mutation: Role of Hybrid Positron Emission Tomography and Magnetic Resonance Imaging and Speckle-Tracking Echocardiography.
Circ Cardiovasc Imaging. 2018 Aug; 11(8):e007896. doi: 10.1161/CIRCIMAGING.118.007896.
No abstract available.
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Oder D, Wanner C, Nordbeck P (2018) 
The D313Y genotype-Pathogenic mutation or polymorphism?
Clin Genet. 2018 Jun; 93(6):1257. doi: 10.1111/cge.13237.
No abstract available.
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Spada M, Baron R, Elliott PM, Falissard B, Hilz MJ, Monserrat L, Tøndel C, Tylki-Szymańska A, Wanner C, Germain DP (2018) 
The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts.
Mol Genet Metab. 2019 Mar; 126(3):212-223. doi: 10.1016/j.ymgme.2018.04.007. 
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Üçeyler N, Böttger J, Henkel L, Langjahr M, Mayer C, Nordbeck P, Wanner C, Sommer C (2018) 
Detection of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease.
J Intern Med. 2018 Oct; 284(4):427-438. doi: 10.1111/joim.12801. 
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Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ (2018) 
European expert consensus statement on therapeutic goals in Fabry disease.
Mol Genet Metab. 2018 Jul; 124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Review.
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Wanner C, Germain DP, Hilz MJ, Spada M, Falissard B, Elliott PM (2018) 
Therapeutic goals in Fabry disease: Recommendations of a European expert panel, based on current clinical evidence with enzyme replacement therapy.
Mol Genet Metab. 2019 Mar; 126(3):210-211. doi: 10.1016/j.ymgme.2018.04.004.
No abstract available.
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Welford RWD, Mühlemann A, Garzotti M, Rickert V, Groenen PMA, Morand O, Üçeyler N, Probst MR (2018) 
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
Hum Mol Genet. 2018 Oct 1; 27(19):3392-3403. doi: 10.1093/hmg/ddy248.
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Wilcox WR, Feldt-Rasmussen U, Martins AM, Ortiz A, Lemay RM, Jovanovic A, Germain DP, Varas C, Nicholls K, Weidemann F, Hopkin RJ (2018) 
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.
JIMD Rep. 2018;38: 45-51. doi: 10.1007/8904_2017_28. 
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Publikationen 2017

Arends M, Biegstraaten M, Hughes DA, Mehta A, Elliott PM, Oder D, Watkinson OT, Vaz FM, van Kuilenburg ABP, Wanner C, Hollak CEM (2017)
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.
PLoS One. 2017 Aug 1; 12(8):e0182379. doi: 10.1371/journal.pone.0182379. 
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Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, Hollak CE (2017) 
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
J Am Soc Nephrol. 2017 May; 28(5):1631-1641. doi: 10.1681/ASN.2016090964. 
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Arends M, Wijburg FA, Wanner C, Vaz FM, van Kuilenburg ABP, Hughes DA, Biegstraaten M, Mehta A, Hollak CEM, Langeveld M (2017) 
Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.
Mol Genet Metab. 2017 Jun; 121(2):157-161. doi: 10.1016/j.ymgme.2017.05.001. 
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Hofmann L, Karl F, Sommer C, Üçeyler N. (2017) 
Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease PLoS One. 2017 Jun 29; 12(6):e0180601. doi: 10.1371/journal.pone.0180601. 
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Huber R, Grittner U, Weidemann F, Thijs V, Tanislav C, Enzinger C, Fazekas F, Wolf M, Hennerici MG, McCabe DJ, Putaala J, Tatlisumak T, Kessler C, von Sarnowski B, Martus P, Kolodny E, Norrving B, Rolfs A (2017)  
Patent Foramen Ovale and Cryptogenic Strokes in the Stroke in Young Fabry Patients Study.
Stroke. 2017 Jan; 48(1):30-35. doi: 10.1161/STROKEAHA.116.013620. 
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Köping M, Shehata-Dieler W, Cebulla M, Rak K, Oder D, Müntze J, Nordbeck P, Wanner C, Hagen R, Schraven S (2017) 
Cardiac and renal dysfunction is associated with progressive hearing loss in patients with Fabry disease.
PLoS One. 2017 Nov 21; 12(11):e0188103. doi: 10.1371/journal.pone.0188103. 
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Lenders M, Oder D, Nowak A, Canaan-Kühl S, Arash-Kaps L, Drechsler C, Schmitz B, Nordbeck P, Hennermann JB, Kampmann C, Reuter S, Brand SM, Wanner C, Brand E (2017) 
Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.
J Intern Med. 2017 Sep; 282(3):241-253. doi: 10.1111/joim.12647. 
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Oder D, Liu D, Hu K, Üçeyler N, Salinger T, Müntze J, Lorenz K, Kandolf R, Gröne HJ, Sommer C, Ertl G, Wanner C, Nordbeck P (2017) 
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
Circ Cardiovasc Genet. 2017 Oct; 10(5). pii: e001691. doi: 10.1161/CIRCGENETICS.116.001691.
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Oder D, Störk S, Wanner C, Ertl G, Weidemann F, Nordbeck P (2017) 
The Fabry's Disease Cardiomyopathy as Differential Diagnosis of Acute Coronary Syndrome.
Dtsch Med Wochenschr. 2017 Mar; 142(6):442-449. doi: 10.1055/s-0042-118303. Review. 
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Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C (2017) 
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
Kidney Int. 2017 Feb; 91(2):284-293. doi: 10.1016/j.kint.2016.10.004. 
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Yogasundaram H, Kim D, Oudit O, Thompson RB, Weidemann F, Oudit GY (2017) 
Clinical Features, Diagnosis, and Management of Patients With Anderson-Fabry Cardiomyopathy.
Can J Cardiol. 2017 Jul;33(7):883-897. doi: 10.1016/j.cjca.2017.04.015. Review.
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Publikationen 2016

Lenders M, Hennermann JB, Kurschat C, Rolfs A, Canaan-Kühl S, Sommer C, Üçeyler N, Kampmann C, Karabul N, Giese AK, Duning T, Stypmann J, Krämer J, Weidemann F, Brand SM, Wanner C, Brand E (2016)
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Orphanet J Rare Dis. 2016 Jun 29; 11(1):88. doi: 10.1186/s13023-016-0473-4.
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Lenders M, Weidemann F, Kurschat C, Canaan-Kühl S, Duning T, Stypmann J, Schmitz B, Reiermann S, Krämer J, Blaschke D, Wanner C, Brand SM, Brand E (2016) 
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
Orphanet J Rare Dis. 2016 May 4; 11(1):54. doi: 10.1186/s13023-016-0441-z.
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Oder D, Nordbeck P, Wanner C (2016) 
Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease.
Nephron. 2016; 134(1):30-6. doi: 10.1159/000448968. Epub 2016 Aug 27. Review.
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Oder D, Üçeyler N, Liu D, Hu K, Petritsch B, Sommer C, Ertl G, Wanner C, Nordbeck P (2016) 
Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.
BMJ Open. 2016 Apr 8; 6(4):e010422. doi: 10.1136/bmjopen-2015-010422.
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Oder D, Vergho D, Ertl G, Wanner C, Nordbeck P (2016) 
Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles.
BMC Med Genet. 2016 Jul 19; 17(1):46. doi: 10.1186/s12881-016-0309-z.
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Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J, Germain DP, Hopkin RJ, Jovanovic A, Linhart A, Maruti SS, Mauer M, Oliveira JP, Patel MR, Politei J, Waldek S, Wanner C, Yoo HW, Warnock DG (2016) 
Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.
J Med Genet. 2016 Jul; 53(7):495-502. doi: 10.1136/jmedgenet-2015-103486. 
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Petritsch B, Köstler H, Weng AM, Horn M, Gassenmaier T, Kunz AS, Weidemann F, Wanner C, Bley TA, Beer M (2016) 
Myocardial lipid content in Fabry disease: a combined 1H-MR spectroscopy and MR imaging study at 3 Tesla.
BMC Cardiovasc Disord. 2016 Oct 28;16(1):205.
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Politei JM, Bouhassira D, Germain DP, Goizet C, Guerrero-Sola A, Hilz MJ, Hutton EJ, Karaa A, Liguori R, Üçeyler N, Zeltzer LK, Burlina A (2016) 
Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment CNS Neurosci Ther. 2016 Jul; 22(7):568-76. doi: 10.1111/cns.12542. 
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Rost NS, Cloonan L, Kanakis AS, Fitzpatrick KM, Azzariti DR, Clarke V, Lourenco CM, Germain DP, Politei JM, Homola GA, Sommer C, Üçeyler N, Sims KB (2016) 
Determinants of white matter hyperintensity burden in patients with Fabry disease
Neurology. 2016 May 17; 86(20):1880-6. doi: 10.1212/WNL.0000000000002673. 
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Seydelmann N, Liu D, Krämer J, Drechsler C, Hu K, Nordbeck P, Schneider A, Störk S, Bijnens B, Ertl G, Wanner C, Weidemann F (2016) 
High-Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease.
J Am Heart Assoc. 2016 May 31; 5(6). pii: e002839. doi: 10.1161/JAHA.115.002839.
Zur Publikation

Üçeyler N, Biko L, Hose D, Hofmann L, Sommer C (2016) 
Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development.
Mol Pain. 2016 May 4; 12. pii: 1744806916646379. doi: 10.1177/1744806916646379.
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Üçeyler N, Schröter N, Kafke W, Kramer D, Wanner C, Weidemann F, Sommer C (2016) 
Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease.
PLoS One. 2016 Nov 16; 11(11):e0166484. doi: 10.1371/journal.pone.0166484. 
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Weidemann F, Maier SK, Störk S, Brunner T, Liu D, Hu K, Seydelmann N, Schneider A, Becher J, Canan-Kühl S, Blaschke D, Bijnens B, Ertl G, Wanner C, Nordbeck P (2016) 
Usefulness of an Implantable Loop Recorder to Detect Clinically Relevant Arrhythmias in Patients With Advanced Fabry Cardiomyopathy.
Am J Cardiol. 2016 Jul 15; 118(2):264-74. doi: 10.1016/j.amjcard.2016.04.033. 
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Publikationen von 2011 bis 2015

2015

Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CE (2015)
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
Orphanet J Rare Dis. 2015 Mar 27; 10:36. doi: 10.1186/s13023-015-0253-6.
Zur Publikation 

Krämer J, Bijnens B, Störk S, Ritter CO, Liu D, Ertl G, Wanner C, Weidemann F (2015) 
Left Ventricular Geometry and Blood Pressure as Predictors of Adverse Progression of Fabry Cardiomyopathy
PLoS One. 2015 Nov 23; 10(11):e0140627. doi: 10.1371/journal.pone.0140627.  
Zur Publikation 

Krämer J, Nordbeck P, Störk S, Ritter C, Ertl G, Wanner C, Weidemann F (2015)
Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy. 
JIMD Rep. 2015 Oct 27. [Epub ahead of print]
Zur Publikation 

Lenders M, Canaan-Kühl S, Krämer J, Duning T, Reiermann S, Sommer C, Stypmann J, Blaschke D, Üçeyler N, Hense HW, Brand SM, Wanner C, Weidemann F, Brand E (2015)
Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction and Switch-2-Year Follow-Up.
J Am Soc Nephrol. 2016 Mar; 27(3):952-62. doi: 10.1681/ASN.2015030337. 
Zur Publikation 

Magg B, Riegler C, Wiedmann S, Heuschmann P, Sommer C, Üçeyler N (2015)
Self-administered version of the Fabry-associated pain questionnaire for adult patients.
Orphanet J Rare Dis. 2015 Sep 17; 10:113. doi: 10.1186/s13023-015-0325-7
Zur Publikation 

Warnock DG, Thomas CP, Vujkovac B, Campbell RC, Charrow J, Laney DA, Jackson LL, Wilcox WR, Wanner C (2015)
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.
J Med Genet. 2015 Dec; 52(12):860-6. doi: 10.1136/jmedgenet-2015-103471. 
Zur Publikation 

Weidemann F, Ertl G, Wanner C, Krämer J (2015)
The Fabry cardiomyopathy - diagnostic approach and current treatment.
Curr Pharm Des. 2015;21(4):473-8. Review.
Zur Publikation 

2014

Krämer J, Niemann M, Störk S, Frantz S, Beer M, Ertl G, Wanner C, Weidemann F (2014)
Relation of burden of myocardial fibrosis to malignant ventricular arrhythmias and outcomes in Fabry diseaseAm J Cardiol. 2014 Sep 15; 114(6):895-900. doi: 10.1016/j.amjcard.2014.06.019. 
Zur Publikation 

Niemann M, Rolfs A, Störk S, Bijnens B, Breunig F, Beer M, Ertl G, Wanner C, Weidemann F (2014)
Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.
Circ Cardiovasc Genet. 2014 Feb; 7(1):8-16. doi: 10.1161/CIRCGENETICS.113.000249. 
Zur Publikation 

Seydelmann N, Wanner C, Störk S, Ertl G, Weidemann F (2014)
Fabry disease and the heart Best Pract Res Clin Endocrinol Metab. 2015 Mar; 29(2):195-204. doi: 10.1016/j.beem.2014.10.003. Review.
Zur Publikation 

Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA, Linthorst GE, Timmermans J, Weidemann F, West ML, Biegstraaten M, Lekanne Deprez RH, Florquin S, Postema PG, Tomberli B, van der Wal AC, van den Bergh Weerman MA, Hollak CE (2014)
Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.
Int J Cardiol. 2014 Dec 15; 177(2):400-8. doi: 10.1016/j.ijcard.2014.09.001. Review.
Zur Publikation 

van der Tol L, Cassiman D, Houge G, Janssen MC, Lachmann RH, Linthorst GE, Ramaswami U, Sommer C, Tøndel C, West ML, Weidemann F, Wijburg FA, Svarstad E, Hollak CE, Biegstraaten M (2014) 
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.
JIMD Rep. 2014; 17:83-90. doi: 10.1007/8904_2014_342. 
Zur Publikation

van der Tol L, Svarstad E, Ortiz A, Tøndel C, Oliveira JP, Vogt L, Waldek S, Hughes DA, Lachmann RH, Terryn W, Hollak CE, Florquin S, van den Bergh Weerman MA, Wanner C, West ML, Biegstraaten M, Linthorst GE (2014)
Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.
Mol Genet Metab. 2015 Feb; 114(2):242-7. doi: 10.1016/j.ymgme.2014.08.007. 
Zur Publikation

Üçeyler N, Ganendiran S, Kramer D, Sommer C (2014) 
Characterization of pain in fabry disease.
Clin J Pain. 2014 Oct;30(10):915-20. doi: 10.1097/AJP.0000000000000041.
Zur Publikation 

Üçeyler N, Homola GA, Guerrero González H, Kramer D, Wanner C, Weidemann F, Solymosi L, Sommer C (2014)
Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease.
PLoS One. 2014 Jan 27; 9(1):e87054. doi: 10.1371/journal.pone.0087054. 
Zur Publikation 

Üçeyler N, Magg B, Thomas P, Wiedmann S, Heuschmann P, Sommer C (2014)
A comprehensive Fabry-related pain questionnaire for adult patients.
Pain. 2014 Nov; 155(11):2301-5. doi: 10.1016/j.pain.2014.08.024. 
Zur Publikation

Wagner M, Krämer J, Blohm E, Vergho D, Weidemann F, Breunig F, Wanner C (2014)
Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease.
BMC Nephrol. 2014 Nov 29; 15:188. doi: 10.1186/1471-2369-15-188.
Zur Publikation 

Weidemann F, Krämer J, Duning T, Lenders M, Canaan-Kühl S, Krebs A, Guerrero González H, Sommer C, Üçeyler N, Niemann M, Störk S, Schelleckes M, Reiermann S, Stypmann J, Brand SM, Wanner C, Brand E (2014)
Patients with Fabry disease after enzyme replacement therapy dose reduction versus treatment switch.
J Am Soc Nephrol. 2014 Apr; 25(4):837-49. doi: 10.1681/ASN.2013060585. 
Zur Publikation

Wühl E, van Stralen KJ, Wanner C, Ariceta G, Heaf JG, Bjerre AK, Palsson R, Duneau G, Hoitsma AJ, Ravani P, Schaefer F, Jager KJ (2014)
Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA-EDTA Registry.
Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv1-8. doi: 10.1093/ndt/gfu030.
Zur Publikation 

2013

Drechsler C, Schmiedeke B, Niemann M, Schmiedeke D, Krämer J, Turkin I, Blouin K, Emmert A, Pilz S, Obermayer-Pietsch B, Weidemann F, Breunig F, Wanner C (2013)
Potential role of vitamin D deficiency on Fabry cardiomyopathy.
J Inherit Metab Dis. 2014 Mar; 37(2):289-95. doi: 10.1007/s10545-013-9653-8. 
Zur Publikation 

Germain DP, Weidemann F, Abiose A, Patel MR, Cizmarik M, Cole JA, Beitner-Johnson D, Benistan K, Cabrera G, Charrow J, Kantola I, Linhart A, Nicholls K, Niemann M, Scott CR, Sims K, Waldek S, Warnock DG, Strotmann J, Fabry Registry (2013)
Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry.
Genet Med. 2013 Dec; 15(12):958-65. doi: 10.1038/gim.2013.53.
Zur Publikation

Krämer J, Niemann M, Liu D, Hu K, Machann W, Beer M, Wanner C, Ertl G, Weidemann F (2013)
Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry disease.
Eur Heart J. 2013 Jun; 34(21):1587-96. doi: 10.1093/eurheartj/eht098.
Zur Publikation


Machann W, Geier O, Koeppe S, O'Donnell T, Greiser A, Breunig F, Sandstede J, Hahn D, Koestler H, Beer M (2013)
Reproducibility of manual and semi-automated late enhancement quantification in patients with Fabry disease.
Acta Radiol. 2014 Mar; 55(2):155-60. doi: 10.1177/0284185113505275. 
Zur Publikation 

Sommer C, Üçeyler N, Duning T, Arning K, Baron R, Brand E, Canaan-Kühl S, Hilz M, Naleschinski D, Wanner C, Weidemann F (2013)
[Pain therapy for Fabry's disease].
Internist (Berl). 2013 Jan; 54(1):121-2, 124-30. doi: 10.1007/s00108-012-3204-5. Review. German. 
Zur Publikation

Üçeyler N, Kahn AK, Kramer D, Zeller D, Casanova-Molla J, Wanner C, Weidemann F, Katsarava Z, Sommer C (2013)
Impaired small fiber conduction in patients with Fabry disease: a neurophysiological case-control study.
BMC Neurol. 2013 May 24; 13:47. doi: 10.1186/1471-2377-13-47.
Zur Publikation

Weidemann F, Niemann M, Störk S, Breunig F, Beer M, Sommer C, Herrmann S, Ertl G, Wanner C (2013)
Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications.
J Intern Med. 2013 Oct; 274(4):331-41. doi: 10.1111/joim.12077. 
Zur Publikation 

Weidemann F, Sanchez-Niño MD, Politei J, Oliveira JP, Wanner C, Warnock DG, Ortiz A (2013)
Fibrosis: a key feature of Fabry disease with potential therapeutic implications.
Orphanet J Rare Dis. 2013 Aug 6; 8:116. doi: 10.1186/1750-1172-8-116. Review.
Zur Publikation 

2012

Linthorst GE, Burlina AP, Cecchi F, Cox TM, Fletcher JM, Feldt-Rasmussen U, Giugliani R, Hollak CE, Houge G, Hughes D, Kantola I, Lachmann R, Lopez M, Ortiz A, Parini R, Rivera A, Rolfs A, Ramaswami U, Svarstad E, Tondel C, Tylki-Szymanska A, Vujkovac B, Waldek S, West M, Weidemann F, Mehta A (2012)
Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage.
JIMD Rep. 2013; 8:51-6. doi: 10.1007/8904_2012_160. 
Zur Publikation

Lorenzen JM, Dietrich B, Fiedler J, Jazbutyte V, Fleissner F, Karpinski N, Weidemann F, Wanner C, Asan E, Caprio M, Ertl G, Bauersachs J, Thum T (2012)
Pathologic endothelial response and impaired function of circulating angiogenic cells in patients with Fabry disease.
Basic Res Cardiol. 2013 Jan; 108(1):311. doi: 10.1007/s00395-012-0311-3. 
Zur Publikation

Niemann M, Hartmann T, Namdar M, Breunig F, Beer M, Machann W, Herrmann S, Ertl G, Wanner C, Weidemann F (2012)
Cross-sectional baseline analysis of electrocardiography in a large cohort of patients with untreated Fabry disease.
J Inherit Metab Dis. 2013 Sep; 36(5):873-9. doi: 10.1007/s10545-012-9540-8. 
Zur Publikation 

Niemann M, Rolfs A, Giese A, Mascher H, Breunig F, Ertl G, Wanner C, Weidemann F (2012)
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease.
JIMD Rep. 2013; 7:99-102. doi: 10.1007/8904_2012_154. 
Zur Publikation 

Niemann M, Weidemann F (2012)
A dangerous combination: Fabry disease and factor V Leiden.
Intern Med J. 2012 Nov; 42(11):1270-1. doi: 10.1111/j.1445-5994.2012.02954.x. No abstract available.
Zur Publikation 

Petritsch B, Köstler H, Machann W, Horn M, Weng AM, Goltz JP, Hahn D, Niemann M, Weidemann F, Wanner C, Beer M (2012)
Non-invasive determination of myocardial lipid content in Fabry disease by 1H-MR spectroscopy.
Rofo. 2012 Nov; 184(11):1020-5. doi: 10.1055/s-0032-1313059. 
Zur Publikation 

Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, Poppe B, Serra A, Van Biesen W, Vanholder R, Wanner C (2012)
Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.
Nephrol Dial Transplant. 2013 Mar; 28(3):505-17. doi: 10.1093/ndt/gfs526. 
Zur Publikation

Üçeyler N, He L, Kahn AK, Breunig F, Müllges W, Sommer C (2012)Cerebral blood flow in patients with Fabry disease as measured by Doppler sonography is not different from that in healthy individuals and is unaffected by treatment.
J Ultrasound Med. 2012 Mar; 31(3):463-8.
Zur Publikation 

Üçeyler N, Sommer C (2012). 
Fabry disease: diagnosis and treatment.
Schmerz; 2012 Sep; 26(5):609-19. doi: 10.1007/s00482-012-1238-1. Review. German.
Zur Publikation

Yousef Z, Elliott PM, Cecchi F, Escoubet B, Linhart A, Monserrat L, Namdar M, Weidemann F (2012)
Left ventricular hypertrophy in Fabry disease: a practical approach to diagnosis.
Eur Heart J. 2013 Mar;3 4(11):802-8. doi: 10.1093/eurheartj/ehs166. No abstract available.
Zur Publikation

2011

Kistler AD, Siwy J, Breunig F, Jeevaratnam P, Scherl A, Mullen W, Warnock DG, Wanner C, Hughes DA, Mischak H, Wüthrich RP, Serra AL (2011)
A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapy.
PLoS One. 2011; 6(6):e20534. doi: 10.1371/journal.pone.0020534. 
Zur Publikation 

Koeppe S, Neubauer H, Breunig F, Weidemann F, Wanner C, Sandstede J, Machann W, Hahn D, Köstler H, Beer M. (2011)
MR-based analysis of regional cardiac function in relation to cellular integrity in Fabry disease.
Int J Cardiol. 2012 Sep 20; 160(1):53-8. doi: 10.1016/j.ijcard.2011.03.023. 
Zur Publikation

Machann W, Breunig F, Weidemann F, Sandstede J, Hahn D, Köstler H, Neubauer S, Wanner C, Beer M (2010)
Cardiac energy metabolism is disturbed in Fabry disease and improves with enzyme replacement therapy using recombinant human galactosidase A.
Eur J Heart Fail. 2011 Mar; 13(3):278-83. doi: 10.1093/eurjhf/hfq211.
Zur Publikation 

Niemann M, Breunig F, Beer M, Hu K, Liu D, Emmert A, Herrmann S, Ertl G, Wanner C, Takenaka T, Tei C, Weidemann F (2011)
Tei index in fabry disease.
J Am Soc Echocardiogr. 2011 Sep; 24(9):1026-32. doi: 10.1016/j.echo.2011.05.021. 
Zur Publikation

Niemann M, Herrmann S, Hu K, Breunig F, Strotmann J, Beer M, Machann W, Voelker W, Ertl G, Wanner C, Weidemann F (2011)
Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment.
JACC Cardiovasc Imaging. 2011 Jun; 4(6):592-601. doi: 10.1016/j.jcmg.2011.01.020
Zur Publikation 

Üçeyler N, He L, Schönfeld D, Kahn AK, Reiners K, Hilz MJ, Breunig F, Sommer C (2011)
Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy.
J Peripher Nerv Syst. 2011 Dec; 16(4):304-14. doi: 10.1111/j.1529-8027.2011.00365.x.
Zur Publikation

Warnock DG, Ortiz A, Mauer M, Linthorst GE, Oliveira JP, Serra AL, Maródi L, Mignani R, Vujkovac B, Beitner-Johnson D, Lemay R, Cole JA, Svarstad E, Waldek S, Germain DP, Wanner C, Fabry Registry (2011)
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.
Nephrol Dial Transplant. 2012 Mar; 27(3):1042-9. doi: 10.1093/ndt/gfr420. 
Zur Publikation 

Weidemann F, Niemann M, Sommer C, Beer M, Breunig F, Wanner C (2011)
Interdisciplinary approach towards female patients with Fabry disease.
Eur J Clin Invest. 2012 Apr; 42(4):455-62. doi: 10.1111/j.1365-2362.2011.02614.x. Review.
Zur Publikation

Weidemann F, Niemann M, Warnock DG, Ertl G, Wanner C (2011)
The Fabry cardiomyopathy: models for the cardiologist.Annu Rev Med. 2011; 62:59-67. doi: 10.1146/annurev-med-090910-085119. Review.
Zur Publikation

Wuest W, Machann W, Breunig F, Weidemann F, Koestler H, Hahn D, Wanner C, Beer M (2011)
Right ventricular involvement in patients with Fabry's disease and the effect of enzyme replacement therapy.
Rofo. 2011 Nov; 183(11):1037-42. doi: 10.1055/s-0031-1281744.
Zur Publikation 

Publikationen 2003 bis 2010

2010

Linthorst GE, Germain DP, Hollak CE, Hughes D, Rolfs A, Wanner C, Mehta A; European Medicines Agency (2010)
Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT).
Mol Genet Metab. 2011 Jan; 102(1):99-102. doi: 10.1016/j.ymgme.2010.11.155. 
Zur Publikation

Paschke E, Fauler G, Winkler H, Schlagenhauf A, Plecko B, Erwa W, Breunig F, Urban W, Vujkovac B, Sunder-Plassmann G, Kotanko P (2010)
Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.
Am J Kidney Dis. 2011 May; 57(5):673-81. doi: 10.1053/j.ajkd.2010.10.046. 
Zur Publikation  

van Breemen MJ, Rombach SM, Dekker N, Poorthuis BJ, Linthorst GE, Zwinderman AH, Breunig F, Wanner C, Aerts JM, Hollak CE (2010)
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy.
Biochim Biophys Acta. 2011 Jan; 1812(1):70-6. doi: 10.1016/j.bbadis.2010.09.007. 
Zur Publikation

Giannini EH, Mehta AB, Hilz MJ, Beck M, Bichet DG, Brady RO, West M, Germain DP, Wanner C, Waldek S, Clarke JT, Mengel E, Strotmann JM, Warnock DG, Linhart A (2010)
A validated disease severity scoring system for Fabry disease.
Mol Genet Metab. 2010 Mar; 99(3):283-90. doi: 10.1016/j.ymgme.2009.10.178. 
Zur Publikation

Mignani R, Feriozzi S, Schaefer RM, Breunig F, Oliveira JP, Ruggenenti P, Sunder-Plassmann G (2010)
Dialysis and transplantation in Fabry disease: indications for enzyme replacement therapy.
Clin J Am Soc Nephrol. 2010 Feb; 5(2):379-85. doi: 10.2215/CJN.05570809. Review.
Zur Publikation 

Niemann M, Breunig F, Beer M, Herrmann S, Strotmann J, Hu K, Emmert A, Voelker W, Ertl G, Wanner C, Weidemann F (2010)
The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy.
Heart. 2010 Dec; 96(23):1915-9. doi: 10.1136/hrt.2010.204586.
Zur Publikation

Niemann M, Liu D, Hu K, Herrmann S, Breunig F, Strotmann J, Störk S, Voelker W, Ertl G, Wanner C, Weidemann F (2010)
Prominent papillary muscles in Fabry disease: a diagnostic marker?
Ultrasound Med Biol. 2011 Jan; 37(1):37-43. doi: 10.1016/j.ultrasmedbio.2010.10.017.
Zur Publikation

Ortiz A, Cianciaruso B, Cizmarik M, Germain DP, Mignani R, Oliveira JP, Villalobos J, Vujkovac B, Waldek S, Wanner C, Warnock DG (2010)
End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry.
Nephrol Dial Transplant. 2010 Mar; 25(3):769-75. doi: 10.1093/ndt/gfp554.
Zur Publikation

Waldek S, Germain DP, Wanner C, Warnock DG (2010)
Enzyme replacement therapy for Fabry's disease.
Lancet. 2010 May 1; 375(9725):1523; author reply 1523-4. doi: 10.1016/S0140-6736(10)60653-8.No abstract available.
Zur Publikation

Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain DP, Linthorst GE, Serra AL, Maródi L, Mignani R, Cianciaruso B, Vujkovac B, Lemay R, Beitner-Johnson D, Waldek S, Warnock DG (2010)
Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry.
Clin J Am Soc Nephrol. 2010 Dec; 5(12):2220-8. doi: 10.2215/CJN.04340510.
Zur Publikation

Watt T, Burlina AP, Cazzorla C, Schönfeld D, Banikazemi M, Hopkin RJ, Martins AM, Sims K, Beitner-Johnson D, O'Brien F, Feldt-Rasmussen U (2010)
Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry.
Genet Med. 2010 Nov; 12(11):703-12. doi: 10.1097/GIM.0b013e3181f13a4a.
Zur Publikation

Weidemann F, Linhart A, Monserrat L, Strotmann J (2010)
Cardiac challenges in patients with Fabry disease.
Int J Cardiol. 2010 May 14; 141(1):3-10. doi: 10.1016/j.ijcard.2009.08.002. Review.
Zur Publikation

Weidemann F, Niemann M (2010)
Screening for Fabry disease using genetic testing.
Eur J Heart Fail. 2010 Jun; 12(6):530-1. doi: 10.1093/eurjhf/hfq080. No abstract available.
Zur Publikation

Weidemann F, Niemann M, Sommer C, Beer M, Breunig F, Wanner C (2010)
Females with Fabry's disease - an interdisciplinary diagnostic and therapeutic challenge.
Med Klin (Munich). 2010 Sep; 105(9):627-34. doi: 10.1007/s00063-010-1102-y. Review. German.
Zur Publikation

Weidemann F, Sommer C, Duning T, Lanzl I, Möhrenschlager M, Naleschinski D, Arning K, Baron R, Niemann M, Breunig F, Schaefer R, Strotmann J, Wanner C (2010)
Department-related tasks and organ-targeted therapy in Fabry disease: an interdisciplinary challenge.
Am J Med. 2010 Jul;123(7):658.e1-658.e10. doi: 10.1016/j.amjmed.2009.12.022. Review.
Zur Publikation

2009

Cybulla M, Walter KN, Schwarting A, Divito R, Feriozzi S, Sunder-Plassmann G; European FOS Investigators Group (2009)
Kidney transplantation in patients with Fabry disease.
Transpl Int. 2009 Apr; 22(4):475-81. doi: 10.1111/j.1432-2277.2008.00824.x.
Zur Publikation

Fogo AB, Bostad L, Svarstad E, Cook WJ, Moll S, Barbey F, Geldenhuys L, West M, Ferluga D, Vujkovac B, Howie AJ, Burns A, Reeve R, Waldek S, Noël LH, Grünfeld JP, Valbuena C, Oliveira JP, Müller J, Breunig F, Zhang X, Warnock DG; all members of the International Study Group of Fabry Nephropathy (ISGFN) (2009)
Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN).
Nephrol Dial Transplant. 2010 Jul; 25(7):2168-77. doi: 10.1093/ndt/gfp528.
Zur Publikation

Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M, Clarke JT; Fabry Outcome Survey investigators (2009)
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data.
Lancet. 2009 Dec 12; 374(9706):1986-96. doi: 10.1016/S0140-6736(09)61493-8.
Erratum in: Lancet. 2010 Jan 16; 375(9710):200.
Zur Publikation

Oqvist B, Brenner BM, Oliveira JP, Ortiz A, Schaefer R, Svarstad E, Wanner C, Zhang K, Warnock DG (2009)
Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations.
Nephrol Dial Transplant. 2009 Jun; 24(6):1736-43. doi: 10.1093/ndt/gfp105 ; Review. No abstract available.
Zur Publikation

Warnock DG, Remuzzi G, Brenner BM, Levin A, Wanner C (2009)
Introduction to Focus on Fabry nephropathy: biomarkers, progression, and disease severity.
Clin J Am Soc Nephrol. 2010 Feb; 5(2):359. doi: 10.2215/CJN.08191109. No abstract available.
Zur Publikation

Weidemann F, Niemann M, Breunig F, Herrmann S, Beer M, Störk S, Voelker W, Ertl G, Wanner C, Strotmann J (2009)
Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment.
Circulation. 2009 Feb 3; 119(4):524-9. doi: 10.1161/CIRCULATIONAHA.108.794529.
Zur Publikation

Weidemann F, Sommer C, Duning T, Lanzl I, Möhrenschlager M, Naleschinski D, Baron R, Breunig F, Schaefer R, Strotmann J, Wanner C (2009)
Division-related function and organ-related therapy in Fabry's disease. An interdisciplinary challenge.
Med Klin (Munich). 2009 Jan 15; 104(1):10-9. doi: 10.1007/s00063-009-1003-0. Review. German.
Zur Publikation

2008

Breunig F (2008)
Early detection and treatment of Fabry disease.
Clin Ther. 2008; 30 Suppl B:S45. No abstract available.
Zur Publikation

Breunig F, Wanner C (2008)
Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy.
J Nephrol. 2008 Jan-Feb; 21(1):32-7. Review.
Zum Abstract

Hollak CE, Vedder AC, Winchester B, Aerts JM, Breunig F (2008)
Enzyme replacement therapy in Fabry disease: towards a better understanding of the implications of antibody formation and dose.
Mol Genet Metab. 2008 Dec; 95(4):239-40. doi: 10.1016/j.ymgme.2008.08.006.
No abstract available
Zur Publikation

Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C; Fabry Registry (2008)
Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.
Nephrol Dial Transplant. 2008 May; 23(5):1600-7. doi: 10.1093/ndt/gfm848.
Zur Publikation

Ortiz A, Oliveira JP, Wanner C, Brenner BM, Waldek S, Warnock DG (2008)
Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults.
Nat Clin Pract Nephrol. 2008 Jun; 4(6):327-36. doi: 10.1038/ncpneph0806.
Zur Publikation 

Vedder AC, Breunig F, Donker-Koopman WE, Mills K, Young E, Winchester B, Ten Berge IJ, Groener JE, Aerts JM, Wanner C, Hollak CE (2008)
Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.
Mol Genet Metab. 2008 Jul; 94(3):319-25. doi: 10.1016/j.ymgme.2008.03.003.
Zur Publikation 

Wanner C, Ramaswami U (2008)
Foreword. The 8th Annual European Round Table on Fabry Disease.
Clin Ther. 2008;30 Suppl B:S39.
No abstract available.
Zum Vorwort 

Weidemann F, Breunig F (2008)
[Cardiac involvement in Fabry's disease].
Med Klin (Munich). 2008 Mar 15; 103(3):161-5. doi: 10.1007/s00063-008-1023-1. Review. German.
Zur Publikation

Weidemann F, Strotmann J (2008)
Early detection of Fabry disease: cardiac cases.
Clin Ther. 2008; 30 Suppl B:S46
No abstract available.
Zur Publikation 

Weidemann F, Strotmann JM, Breunig F, Niemann M, Maag R, Baron R, Eggert AO, Wanner C (2008)
Misleading terms in Anderson-Fabry disease
Eur J Clin Invest. 2008 Mar; 38(3):191-6. doi: 10.1111/j.1365-2362.2008.01921.x.
Zur Publikation

Weidemann F, Strotmann JM, Niemann M, Herrmann S, Wilke M, Beer M, Voelker W, Ertl G, Emmert A, Wanner C, Breunig F (2008)
Heart valve involvement in Fabry cardiomyopathy.
Ultrasound Med Biol. 2009 May; 35(5):730-5. doi: 10.1016/j.ultrasmedbio.2008.10.010.
Zur Publikation

Weidemann F, Wanner C, Breunig F (2008)
Nomen est omen. Fabry disease.
Eur J Echocardiogr. 2008 Nov; 9(6):831-2. doi: 10.1093/ejechocard/jen170.
Zur Publikation

2007

Dietrich B, Karpinski N, Jakob M, Weidemann F, Breunig F, Wanner C, Ertl G, Bauersachs J, Thum T (2007)
Malfunction of endothelial progenitor cells and endothelial function in patients with Fabry disease.
J Stem Cells Regen Med. 2007 May 16; 2(1):161-2.
No abstract available.
Zur Publikation

Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, Breunig F, Charrow J, Germain DP, Nicholls K, Banikazemi M (2007)
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.
J Inherit Metab Dis. 2007 Apr; 30(2):184-92.
Zur Publikation

Strotmann J, Breunig F, Wanner C, Weidemann F (2007)
Progression of Fabry cardiomyopathy.
Clin Ther. 2007; 29 Suppl A:S13-4. Review.
No abstract available.
Zur Publikation

Wanner C (2007)
Fabry disease model: a rational approach to the management of Fabry disease.
Clin Ther. 2007; 29 Suppl A:S2-5. Erratum in: Clin Ther. 2007 Oct;29(10):2268.
Zur Publikation

Wanner C (2007)
Fabry disease: clinical outcomes of agalsidase enzyme replacement therapies.
Int J Clin Pract. 2007 Jul; 61(7):1234-5; author reply 1235.
No abstract available.
Zur Publikation

Wanner C, Breunig F (2007)
Fabry nephropathy and the case for adjunctive renal therapy.
J Am Soc Nephrol. 2007 Sep; 18(9):2426-8. Epub 2007 Aug 15. Review.
No abstract available.
Zur Publikation 

Weidemann F, Niemann M, Herrmann S, Kung M, Störk S, Waller C, Beer M, Breunig F, Wanner C, Voelker W, Ertl G, Bijnens B, Strotmann JM (2007)
A new echocardiographic approach for the detection of non-ischaemic fibrosis in hypertrophic myocardium.
Eur Heart J. 2007 Dec; 28(24):3020-6.
Zur Publikation

Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry (2007)
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
Mol Genet Metab. 2008 Feb; 93(2):112-28.
Zur Publikation

2006

Beer M, Weidemann F, Breunig F, Knoll A, Koeppe S, Machann W, Hahn D, Wanner C, Strotmann J, Sandstede J (2006)
Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy.
Am J Cardiol. 2006 May 15; 97(10):1515-8.
Zur Publikation

Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C (2006)
Clinical benefit of enzyme replacement therapy in Fabry disease.
Kidney Int. 2006 Apr; 69(7):1216-21
Zur Publikation

Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR (2006)
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
Genet Med. 2006 Sep; 8(9):539-48. Review.
Zur Publikation 

2005

Eggert AO, Wössner R, Knoll A, Hamm H, Wanner C, Breunig FB (2005)
Umbilical angiectases as the sole clinical sign of Fabry disease in a 9-year-old boy.
Eur J Pediatr. 2006 Mar; 165(3):205-6.
No abstract available.
Zur Publikation

Fauler G, Rechberger GN, Devrnja D, Erwa W, Plecko B, Kotanko P, Breunig F, Paschke E (2005)
Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard.
Rapid Commun Mass Spectrom. 2005; 19(11):1499-506.
Zur Publikation

Strotmann J, Weidemann F, Breunig F, Knoll A, Wanner C, Ertl G (2005)
Morbus Fabry of the heart. Why should cardiologists care?
Z Kardiol. 2005 Sep; 94(9):557-63. Review.
Zur Publikation

Weidemann F, Breunig F, Beer M, Sandstede J, Störk S, Voelker W, Ertl G, Knoll A, Wanner C, Strotmann JM (2005)
The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease.
Eur Heart J. 2005 Jun; 26(12):1221-7.
Zur Publikation

2003

Breunig F, Knoll A, Wanner C (2003)
Enzyme replacement therapy in Fabry disease: clinical implications.
Curr Opin Nephrol Hypertens. 2003 Sep; 12(5):491-5. Review.
Zur Publikation

Breunig F, Wanner C (2003)
Enzyme replacement therapy for Fabry disease: proving the clinical benefit.
Nephrol Dial Transplant. 2003 Jan; 18(1):7-9. Review. No abstract available.
Zur Publikation

Breunig F, Weidemann F, Beer M, Eggert A, Krane V, Spindler M, Sandstede J, Strotmann J, Wanner C (2003)
Fabry disease: diagnosis and treatment.
Kidney Int Suppl. 2003 May; (84):S181-5. Review.
Zur Publikation

Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, Ertl G, Knoll A, Wanner C, Strotmann JM (2003)
Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study.
Circulation. 2003 Sep 16; 108(11):1299-301.
Zur Publikation 

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