부산대학교 도서관

Daan J Touw; Roland Schmieder; Morten Schou; Shoichi Maruyama; Max Nieuwdorp; Caroline Michaela Kistorp; Piero Ruggenenti; Esben Laugesen; Daniël H van Raalte; Frederik Persson; Jesper Jensen; Annalisa Perna; Georgios Kalambokis; Juan Pablo Díaz Martinez; Frederik Husum Mårup; Massar Omar; Ani Orchanian-Cheff; Eugenio Cersosimo; Sunita Singh; Sawako Kato; Luxcia Kugathasan; Massimo Nardone; Leif Erik Lovblom; Steffen Nielsen; Viktor Rotbain; Agota Kazup; Soren Gullaksen; Liv Vernstrom; Michael J B van Baar; Erik van Bommel; Dennis Kannenkeril; Rosalie Scholtes; Anne Hesp; Charlotte Mosterd; Hiddo Lambers Heerspink; Merle Krebbe; Jaap Joles; Kine Kvitne; Frank Mose; Barbara Geist; Ilias Tsiakas; David Cherney; Vikas Srinivasan Sridhar; Marcel HA Muskiet

BMJ Open, Vol 16, Iss 2 (2026)

Emil Wolsk; Mikkel Jürgens; Morten Schou; Mads Ersbøll; Philip Hasbak; Andreas Kjaer; Bo Zerahn; Niels Høgh Brandt; Peter Haulund Gæde; Peter Rossing; Jens Faber; Caroline Michaela Kistorp; Finn Gustafsson

ESC Heart Fail
ESC Heart Failure, Vol 11, Iss 6, Pp 3551-3558 (2024)
Wolsk, E, Jürgens, M, Schou, M, Ersbøll, M, Hasbak, P, Kjaer, A, Zerahn, B, Høgh Brandt, N, Gæde, P H, Rossing, P, Faber, J, Kistorp, C M & Gustafsson, F 2024, ' Coronary microvascular dysfunction and left heart filling pressures in patients with type 2 diabetes ', E S C Heart Failure, vol. 11, no. 6, pp. 3551-3558 . https://doi.org/10.1002/ehf2.14929

Andersen, Camilla Fuchs; Larsen, Julie Hempel; Omar, Massar; Nouhravesh, Nina; Kistorp, Caroline Michaela; Tuxen, Christian; Knop, Filip K.; Madsen, Per Lav; Forman, Julie Lyng; Davidovski, Filip Soskov; Kober, Lars; Schou, Morten; Moller, Jacob Eifer; Jensen, Jesper

EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY; FEB 3 2026, 14p.

Jes Sanddal Lindholt; Caroline Michaela Kistorp; Louise Lehmann Christensen; Dorte Glintborg; Axel Diederichsen; Jan Frystyk; Laust Frisenberg Buhl; Marianne Andersen

BMJ Open, Vol 14, Iss 5 (2024)

Huma Ahmed; Vibeke Backer; Grigoris Effraimidis; Åse Krogh Rasmussen; Caroline Michaela Kistorp; Ulla Feldt-Rasmussen

Chron Respir Dis
Ahmed, H, Backer, V, Effraimidis, G, Rasmussen, Å K, Kistorp, C M & Feldt-Rasmussen, U 2024, ' Respiratory impairments in patients suffering from Fabry disease – A cross-sectional study ', Chronic Respiratory Disease, vol. 21 . https://doi.org/10.1177/14799731231221821

Emil Wolsk; Mikkel Jürgens; Morten Schou; Mads Ersbøll; Philip Hasbak; Andreas Kjær; Bo Zerahn; Niels Høgh Brandt; Peter Haulund Gæde; Peter Rossing; Jens Faber; Silvio E. Inzucchi; Caroline Michaela Kistorp; Finn Gustafsson

Wolsk, E, Jürgens, M, Schou, M, Ersbøll, M, Hasbak, P, Kjær, A, Zerahn, B, Brandt, N H, Gæde, P H, Rossing, P, Faber, J, Inzucchi, S E, Kistorp, C M & Gustafsson, F 2022, ' Randomized Controlled Trial of the Hemodynamic Effects of Empagliflozin in Patients With Type 2 Diabetes at High Cardiovascular Risk : The SIMPLE Trial ', Diabetes, vol. 71, no. 4, pp. 812-820 . https://doi.org/10.2337/db21-0721

Lopez-Sublet, Marilucy; Merkling, Thomas; Girerd, Nicolas; Xhaard, Constance; Flahault, Adrien; Bozec, Erwan; Leroy, Celine; Fujikawa, Tomona; Vaag, Allan Arthur; Mebazaa, Alexandre; Kistorp, Caroline Michaela; Heude, Barbara; Boivin, Jean Marc; Zannad, Faiez; Wagner, Sandra; Rossignol, Patrick

Journal of Hypertension. Jun 01, 2023 41(6):1040-1050

Tania Deis; Louise Balling; Kasper Rossing; Søren Boesgaard; Caroline Michaela Kistorp; Emil Wolsk; Jens Peter Gøtze; Jens Federik Rehfeld; Finn Gustafsson

Cardiology. 145:769-778

Ahmed, Huma; Backer, Vibeke; Effraimidis, Grigoris; Rasmussen, Åse Krogh; Kistorp, Caroline Michaela; Feldt-Rasmussen, Ulla

Klara Kvorning Ternov; Jens Sønksen; Mikkel Fode; Henriette Lindberg; Caroline Michaela Kistorp; Rasmus Bisbjerg; Ganesh Palapattu; Peter Busch Østergren

BMJ Open, Vol 9, Iss 9 (2019)

NIELS HØEG BRANDT-JACOBS; JON BJARKE RASMUSSEN; MARIE-LOUISE JOHANSEN; PATRICK ROSSIGNOL; JENS FABER; MORTEN SCHOU; CAROLINE MICHAELA KISTORP

Diabetes. 68

Egstrup, Michael; Gustafsson, Ida; Andersen, Mads Jønsson; Kistorp, Caroline Michaela; Schou, Morten; Tuxen, Christian Ditlev; Møller, Jacob Eifer

Egstrup, M, Gustafsson, I, Andersen, M J, Kistorp, C N, Schou, M, Tuxen, C D & Møller, J E 2013, 'Haemodynamic response during low-dose dobutamine infusion in patients with chronic systolic heart failure : comparison of echocardiographic and invasive measurements', European Heart Journal Cardiovascular Imaging, vol. 14, no. 7, pp. 659-67. https://doi.org/10.1093/ehjci/jes234

Kistorp, Caroline Michaela Nervil; Bliddal, Henning; Gøtze, Jens P.; Christensen, Robin; Faber, Jens

BMC Obes
Kistorp, C M N, Bliddal, H, Gøtze, J P, Christensen, R & Faber, J 2014, ' Cardiac natriuretic peptides in plasma increase after dietary induced weight loss in obesity ', BMC Obesity, bind 1, nr. 24, s. 1-9 . https://doi.org/10.1186/s40608-014-0024-2

Wolsk, Emil; Jürgens, Mikkel; Schou, Morten; Ersbøll, Mads; Hasbak, Philip; Kjær, Andreas; Zerahn, Bo; Brandt, Niels Høgh; Gæde, Peter Haulund; Rossing, Peter; Faber, Jens; Inzucchi, Silvio E.; Kistorp, Caroline Michaela; Gustafsson, Finn

Diabetes (DIABETES), Apr2022; 71(4): 812-820. (9p)

Jurgens, Mikkel; Schou, Morten; Hasbak, Philip; Kjaer, Andreas; Wolsk, Emil; Zerahn, Bo; Wiberg, Mikkel; Brandt, Niels Hogh; Gaede, Peter Haulund; Rossing, Peter; Faber, Jens; Inzucchi, Silvio; Gustafsson, Finn; Kistorp, Caroline Michaela

BMJ OPEN; NOV 2019, 9 11, pe029098 8p.

Fibrosis, Inflammation, Oxygenation of Renal Tissue In FabrY Disease
Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med. 2009 Nov;11(11):790-6. doi: 10.1097/GIM.0b013e3181bb05bb.
Wanner C, Germain DP, Hilz MJ, Spada M, Falissard B, Elliott PM. 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. Epub 2018 Apr 11. No abstract available.
Najafian B, Tondel C, Svarstad E, Gubler MC, Oliveira JP, Mauer M. Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss. J Am Soc Nephrol. 2020 Apr;31(4):865-875. doi: 10.1681/ASN.2019050497. Epub 2020 Mar 3.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.
Jehn U, Bayraktar S, Pollmann S, Van Marck V, Weide T, Pavenstadt H, Brand E, Lenders M. alpha-Galactosidase a Deficiency in Fabry Disease Leads to Extensive Dysregulated Cellular Signaling Pathways in Human Podocytes. Int J Mol Sci. 2021 Oct 20;22(21):11339. doi: 10.3390/ijms222111339.
Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart. 2007 Apr;93(4):528-35. doi: 10.1136/hrt.2005.063818. No abstract available.
Yogasundaram H, Kim D, Oudit O, Thompson RB, Weidemann F, Oudit GY. 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. Epub 2017 May 4.
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Ravarotto V, Carraro G, Pagnin E, Bertoldi G, Simioni F, Maiolino G, Martinato M, Landini L, Davis PA, Calo LA. Oxidative stress and the altered reaction to it in Fabry disease: A possible target for cardiovascular-renal remodeling? PLoS One. 2018 Sep 27;13(9):e0204618. doi: 10.1371/journal.pone.0204618. eCollection 2018.
Fall B, Scott CR, Mauer M, Shankland S, Pippin J, Jefferson JA, Wallace E, Warnock D, Najafian B. Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy. PLoS One. 2016 Dec 16;11(12):e0168346. doi: 10.1371/journal.pone.0168346. eCollection 2016.
Selby NM, Blankestijn PJ, Boor P, Combe C, Eckardt KU, Eikefjord E, Garcia-Fernandez N, Golay X, Gordon I, Grenier N, Hockings PD, Jensen JD, Joles JA, Kalra PA, Kramer BK, Mark PB, Mendichovszky IA, Nikolic O, Odudu A, Ong ACM, Ortiz A, Pruijm M, Remuzzi G, Rorvik J, de Seigneux S, Simms RJ, Slatinska J, Summers P, Taal MW, Thoeny HC, Vallee JP, Wolf M, Caroli A, Sourbron S. Magnetic resonance imaging biomarkers for chronic kidney disease: a position paper from the European Cooperation in Science and Technology Action PARENCHIMA. Nephrol Dial Transplant. 2018 Sep 1;33(suppl_2):ii4-ii14. doi: 10.1093/ndt/gfy152.
Pruijm M, Milani B, Burnier M. Blood Oxygenation Level-Dependent MRI to Assess Renal Oxygenation in Renal Diseases: Progresses and Challenges. Front Physiol. 2017 Jan 5;7:667. doi: 10.3389/fphys.2016.00667. eCollection 2016.
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Inoue T, Kozawa E, Okada H, Inukai K, Watanabe S, Kikuta T, Watanabe Y, Takenaka T, Katayama S, Tanaka J, Suzuki H. Noninvasive evaluation of kidney hypoxia and fibrosis using magnetic resonance imaging. J Am Soc Nephrol. 2011 Aug;22(8):1429-34. doi: 10.1681/ASN.2010111143. Epub 2011 Jul 14.
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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. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008 Feb;93(2):112-28. doi: 10.1016/j.ymgme.2007.09.013. Epub 2007 Nov 26.
Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006 Apr;43(4):347-52. doi: 10.1136/jmg.2005.036327. Epub 2005 Oct 14.
Warnock DG, Thomas CP, Vujkovac B, Campbell RC, Charrow J, Laney DA, Jackson LL, Wilcox WR, Wanner C. 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. Epub 2015 Oct 21.
Hughes DA, Aguiar P, Deegan PB, Ezgu F, Frustaci A, Lidove O, Linhart A, Lubanda JC, Moon JC, Nicholls K, Niu DM, Nowak A, Ramaswami U, Reisin R, Rozenfeld P, Schiffmann R, Svarstad E, Thomas M, Torra R, Vujkovac B, Warnock DG, West ML, Johnson J, Rolfe MJ, Feriozzi S. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. BMJ Open. 2020 Oct 10;10(10):e035182. doi: 10.1136/bmjopen-2019-035182.

the Role of cArdiac Inflammation, endoThelial Dysfunction, and FIbrosis in fabrY Disease
Effraimidis G, Rasmussen AK, Dunoe M, Hasholt LF, Wibrand F, Sorensen SS, Lund AM, Kober L, Bundgaard H, Yazdanfard PDW, Oturai P, Larsen VA, Fraga de Abreu VH, Enevoldsen LH, Kristensen T, Svenstrup K, Bille MB, Arif F, Mogensen M, Klokker M, Backer V, Kistorp C, Feldt-Rasmussen U. Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience. PLoS One. 2022 Nov 16;17(11):e0277767. doi: 10.1371/journal.pone.0277767. eCollection 2022.
Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med. 2009 Nov;11(11):790-6. doi: 10.1097/GIM.0b013e3181bb05bb.
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. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008 Feb;93(2):112-28. doi: 10.1016/j.ymgme.2007.09.013. Epub 2007 Nov 26.
Schiffmann R, Fuller M, Clarke LA, Aerts JM. Is it Fabry disease? Genet Med. 2016 Dec;18(12):1181-1185. doi: 10.1038/gim.2016.55. Epub 2016 May 19.
Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, Elliott PM. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002 Mar 26;105(12):1407-11. doi: 10.1161/01.cir.0000012626.81324.38.
Monserrat L, Gimeno-Blanes JR, Marin F, Hermida-Prieto M, Garcia-Honrubia A, Perez I, Fernandez X, de Nicolas R, de la Morena G, Paya E, Yague J, Egido J. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007 Dec 18;50(25):2399-403. doi: 10.1016/j.jacc.2007.06.062.
Weidemann F, Niemann M, Stork S, Breunig F, Beer M, Sommer C, Herrmann S, Ertl G, Wanner C. 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. Epub 2013 May 6.
Weidemann F, Niemann M, Breunig F, Herrmann S, Beer M, Stork S, Voelker W, Ertl G, Wanner C, Strotmann J. 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. Epub 2009 Jan 19.
Pieroni M, Camporeale A, Della Bona R, Sabini A, Cosmi D, Magnolfi A, Bolognese L. Progression of Fabry cardiomyopathy despite enzyme replacement therapy. Circulation. 2013 Oct 8;128(15):1687-8. doi: 10.1161/CIRCULATIONAHA.113.002799. No abstract available.
Rombach SM, Smid BE, Bouwman MG, Linthorst GE, Dijkgraaf MG, Hollak CE. Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis. 2013 Mar 25;8:47. doi: 10.1186/1750-1172-8-47.
Patel V, O'Mahony C, Hughes D, Rahman MS, Coats C, Murphy E, Lachmann R, Mehta A, Elliott PM. Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease. Heart. 2015 Jun;101(12):961-6. doi: 10.1136/heartjnl-2014-306782. Epub 2015 Feb 5.
Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart. 2007 Apr;93(4):528-35. doi: 10.1136/hrt.2005.063818. No abstract available.
Yogasundaram H, Kim D, Oudit O, Thompson RB, Weidemann F, Oudit GY. 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. Epub 2017 May 4.
Frustaci A, Chimenti C, Doheny D, Desnick RJ. Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy‬‬‬‬‬‬‬‬. Int J Cardiol. 2017 Dec 1;248:257-262. doi: 10.1016/j.ijcard.2017.06.079. Epub 2017 Jun 23.
Esposito R, Santoro C, Mandoli GE, Cuomo V, Sorrentino R, La Mura L, Pastore MC, Bandera F, D'Ascenzi F, Malagoli A, Benfari G, D'Andrea A, Cameli M. Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future. J Clin Med. 2021 May 6;10(9):1994. doi: 10.3390/jcm10091994.
Nordin S, Kozor R, Vijapurapu R, Augusto JB, Knott KD, Captur G, Treibel TA, Ramaswami U, Tchan M, Geberhiwot T, Steeds RP, Hughes DA, Moon JC. Myocardial Storage, Inflammation, and Cardiac Phenotype in Fabry Disease After One Year of Enzyme Replacement Therapy. Circ Cardiovasc Imaging. 2019 Dec;12(12):e009430. doi: 10.1161/CIRCIMAGING.119.009430. Epub 2019 Dec 12.
Nordin S, Kozor R, Bulluck H, Castelletti S, Rosmini S, Abdel-Gadir A, Baig S, Mehta A, Hughes D, Moon JC. Cardiac Fabry Disease With Late Gadolinium Enhancement Is a Chronic Inflammatory Cardiomyopathy. J Am Coll Cardiol. 2016 Oct 11;68(15):1707-1708. doi: 10.1016/j.jacc.2016.07.741. No abstract available.
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Tomberli B, Cecchi F, Sciagra R, Berti V, Lisi F, Torricelli F, Morrone A, Castelli G, Yacoub MH, Olivotto I. Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease. Eur J Heart Fail. 2013 Dec;15(12):1363-73. doi: 10.1093/eurjhf/hft104. Epub 2013 Jun 30.
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BRANDT-JACOBS, NIELS HØEG; RASMUSSEN, JON BJARKE; JOHANSEN, MARIE-LOUISE; ROSSIGNOL, PATRICK; FABER, JENS; SCHOU, MORTEN; KISTORP, CAROLINE MICHAELA

Diabetes (DIABETES), 2019 Supplement; 68: N.PAG-N.PAG. (1p)

Amicus Therapeutics; Rigshospitalet, Denmark

Real World Evidence Study of Danish Fabry Patients: a >20- Year Longitudinal Retrospective Analysis of Prospectively Collected Data.

A Randomized, Double-blinded, Clinical, Placebo-controlled Trial on the Effects of Therapy With Letrozole and hUman Choriongonadotropin in Male Hypogonadism Induced by Illicit Use of Anabolic Androgenic Steroids on Plasma Reproductive Hormones, Fertility, Withdrawal Symptoms and Myocardial Function - The LUCAS Trial