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2. Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus

Author

Moreno-Martinez, D., Aguiar, P., Auray-Blais, C., Beck, M., Bichet, D.G., Burlina, A., Cole, D., Elliott, P., Feldt-Rasmussen, U., Feriozzi, S., Fletcher, J., Giugliani, R., Jovanovic, A., Kampmann, C., Langeveld, M., Lidove, O., Linhart, A., Mauer, M., Moon, J.C., Muir, A., Nowak, A., Oliveira, J.P., Ortiz, A., Pintos-Morell, G., Politei, J., Rozenfeld, P., Schiffmann, R., Svarstad, E., Talbot, A.S., Thomas, M., Tøndel, C., Warnock, D., West, M.L., and Hughes, D.A.

Published
2021
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4. Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis

Author

Ramaswami U, Beck M, Hughes D, Kampmann C, Botha J, Pintos-Morell G, West ML, Niu DM, Nicholls K, and Giugliani R

Subjects
Agalsidase alfa, Enzyme replacement therapy, Fabry disease, Cardio-renal outcomes, Therapeutics. Pharmacology, RM1-950
Abstract

Uma Ramaswami,1 Michael Beck,2 Derralynn Hughes,1 Christoph Kampmann,2 Jaco Botha,3 Guillem Pintos-Morell,4 Michael L West,5 Dau-Ming Niu,6 Kathy Nicholls,7,8 Roberto Giugliani9 On behalf of the FOS Study Group 1Royal Free London NHS Foundation Trust, Lysosomal Disorders Unit, Institute of Immunity and Transplantation, London, UK; 2Centre for Paediatric and Adolescent Medicine, University Medical Centre, University of Mainz, Mainz, Germany; 3Department of Biostatistics and Programming, Takeda, Zug, Switzerland; 4Centre for Rare Diseases, University Hospital Vall d’Hebron, Barcelona, CIBERER-GCV08_IGTP Research Institute and Teaching Unit Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain; 5Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada; 6Department of Paediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; 7Department of Nephrology, Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia; 8Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Parkville, VIC, Australia; 9Medical Genetics Service HCPA, Department of Genetics, UFRGS, and INAGEMP, Porto Alegre, BrazilCorrespondence: Uma RamaswamiLysosomal Disorders Unit, Institute of Immunity and Transplantation, 2nd Floor, Royal Free Hospital, Pond Street, London NW3 2QG, UKTel +44 207 794 0500 Ext 22492Fax +44 207 317 7665Email uma.ramaswami@nhs.netPurpose: Following the publication of 5-year agalsidase alfa enzyme replacement therapy (ERT) outcomes data from the Fabry Outcome Survey (FOS), 10-year data were analyzed.Patients and methods: FOS (ClinicalTrials.gov identifier: NCT03289065) data (April 2001 to August 2018) were retrospectively analyzed. Estimated glomerular filtration rate (eGFR) and left ventricular mass indexed to height (LVMI) were analyzed after treatment start (baseline) for patients with ≥3 measurements, including baseline and year 10.Results: Median (range) age (years) of the evaluable treated renal cohort at treatment start was 48.8 (17.9–67.3) for females (n=62), 34.4 (18.0–66.8) for males (n=90). With eGFR ≥60 mL/min/1.73 m2 at baseline, mean (95% CI) rate of eGFR change (eGFR/year) over 10 years was relatively stable in females (n=52; −0.55 [−1.12, +0.01]) and slightly declined in males (n=79; −1.99 [−2.45, −1.54]). With impaired kidney function (eGFR 48 g/m2.7 in females, >50 g/m2.7 in males) at baseline, mean (95% CI) LVMI/year slightly increased over 10 years in females (n=18; +1.51 [+0.91, +2.12]) and males (n=14; +0.87 (+0.19, +1.55). Without LVH at baseline, mean (95% CI) LVMI/year was stable in females (n=16; +0.52 [−0.13, +1.17]) and males (n=21; +0.57 [+0.02, +1.13]) over 10 years.Conclusion: Agalsidase alfa-treated patients with 10-year FOS data and preserved kidney function and/or normal LVMI at baseline remained largely stable; those with decreased kidney function or LVH at baseline experienced modest declines in renal function and/or increases in LVMI.Keywords: agalsidase alfa, enzyme replacement therapy, Fabry disease, cardio-renal outcomes

Published
2019

5. Enzyme replacement therapy for mucopolysaccharidosis VI: long‐term cardiac effects of galsulfase (Naglazyme®) therapy

Author

Braunlin, E, Rosenfeld, H, Kampmann, C, Johnson, J, Beck, M, Giugliani, R, Guffon, N, Ketteridge, D, Miranda, CM Sá, Scarpa, M, Schwartz, IV, Teles, E Leão, Wraith, JE, Barrios, P, da Silva, E Dias, Kurio, G, Richardson, M, Gildengorin, G, Hopwood, JJ, Imperiale, M, Schatz, A, Decker, C, Harmatz, P, and Group, MPS VI Study

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Mucopolysaccharidoses (MPS), Heart Disease, Cardiovascular, Clinical Research, Pediatric, Rare Diseases, Adolescent, Adult, Child, Clinical Trials as Topic, Enzyme Replacement Therapy, Female, Heart Valves, Humans, Hypertrophy, Left Ventricular, Male, Mucopolysaccharidosis VI, N-Acetylgalactosamine-4-Sulfatase, Randomized Controlled Trials as Topic, Recombinant Proteins, Treatment Outcome, Young Adult, MPS VI Study Group, Genetics & Heredity, Genetics, Clinical sciences
Abstract

Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these findings in subjects during long-term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB, rhN-acetylgalactosamine 4-sulfatase, galsulfase, Naglazyme®). Studies were conducted in 54 subjects before ERT was begun and at specific intervals for up to 96 weeks of weekly infusions of rhASB at 1 mg/kg during phase 1/2, phase 2, and phase 3 trials of rhASB. At baseline, mitral and aortic valve obstruction was present and was significantly greater in those ≥12 years of age. Mild mitral and trace aortic regurgitation were present, the former being significantly greater in those

Published
2013

8. Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

Author

Beck, M, Ramaswami, U, Hernberg-Stahl, E, Hughes, DA, Kampmann, C, Mehta, AB, Nicholls, K, Niu, D-M, Pintos-Morell, G, Reisin, R, West, ML, Schenk, J, Anagnostopoulou, C, Botha, J, Giugliani, R, Beck, M, Ramaswami, U, Hernberg-Stahl, E, Hughes, DA, Kampmann, C, Mehta, AB, Nicholls, K, Niu, D-M, Pintos-Morell, G, Reisin, R, West, ML, Schenk, J, Anagnostopoulou, C, Botha, J, and Giugliani, R

Abstract

BACKGROUND: Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 marks the 20th anniversary of the Fabry Outcome Survey (FOS), an international, multicenter, observational registry (NCT03289065). The primary aims of FOS are to broaden the understanding of Fabry disease (FD), an X-linked lysosomal storage disorder, and to improve the clinical management of affected patients. Here, we review the history of FOS and the analyses and publications disseminated from the registry, and we discuss the contributions FOS studies have made in understanding FD. RESULTS: FOS was initiated in April 2001 and, as of January 2021, 4484 patients with a confirmed diagnosis and patient informed consent have been enrolled from 144 centers across 26 countries. Data from FOS have been published in nearly 60 manuscripts on a wide variety of topics relevant to FD. Analyses of FOS data have investigated the long-term effectiveness and safety of enzyme replacement therapy (ERT) with agalsidase alfa and its effects on morbidity and mortality, as well as the benefits of prompt and early treatment with agalsidase alfa on the progression of cardiomyopathy and the decline in renal function associated with FD. Based on analyses of FOS data, ERT with agalsidase alfa has also been shown to improve additional signs and symptoms of FD experienced by patients. FOS data analyses have provided a better understanding of the natural history of FD and the specific populations of women, children, and the elderly, and have provided practical tools for the study of FD. FOS has also provided methodology and criteria for assessing disease severity which contributed to the continuous development of medical practice in FD and has largely improved our understanding of the challenges and needs of long-term data collection in rare diseases, aiding

Published
2022

13. Standardising clinical outcomes measures for adult clinical trials in Fabry disease:A global Delphi consensus

Author

Moreno-Martinez, D., Aguiar, P., Auray-Blais, C., Beck, M., Bichet, D. G., Burlina, A., Cole, D., Elliott, P., Feldt-Rasmussen, U., Feriozzi, S., Fletcher, J., Giugliani, R., Jovanovic, A., Kampmann, C., Langeveld, M., Lidove, O., Linhart, A., Mauer, M., Moon, J. C., Muir, A., Nowak, A., Oliveira, J. P., Ortiz, A., Pintos-Morell, G., Politei, J., Rozenfeld, P., Schiffmann, R., Svarstad, E., Talbot, A. S., Thomas, M., Tøndel, C., Warnock, D., West, M. L., Hughes, D. A., Moreno-Martinez, D., Aguiar, P., Auray-Blais, C., Beck, M., Bichet, D. G., Burlina, A., Cole, D., Elliott, P., Feldt-Rasmussen, U., Feriozzi, S., Fletcher, J., Giugliani, R., Jovanovic, A., Kampmann, C., Langeveld, M., Lidove, O., Linhart, A., Mauer, M., Moon, J. C., Muir, A., Nowak, A., Oliveira, J. P., Ortiz, A., Pintos-Morell, G., Politei, J., Rozenfeld, P., Schiffmann, R., Svarstad, E., Talbot, A. S., Thomas, M., Tøndel, C., Warnock, D., West, M. L., and Hughes, D. A.

Abstract

Background: Recent years have witnessed a considerable increase in clinical trials of new investigational agents for Fabry disease (FD). Several trials investigating different agents are currently in progress; however, lack of standardisation results in challenges to interpretation and comparison. To facilitate the standardisation of investigational programs, we have developed a common framework for future clinical trials in FD. Methods and findings: A broad consensus regarding clinical outcomes and ways to measure them was obtained via the Delphi methodology. 35 FD clinical experts from 4 continents, representing 3389 FD patients, participated in 3 rounds of Delphi procedure. The aim was to reach a consensus regarding clinical trial design, best treatment comparator, clinical outcomes, measurement of those clinical outcomes and inclusion and exclusion criteria. Consensus results of this initiative included: the selection of the adaptative clinical trial as the ideal study design and agalsidase beta as ideal comparator treatment due to its longstanding use in FD. Renal and cardiac outcomes, such as glomerular filtration rate, proteinuria and left ventricular mass index, were prioritised, whereas neurological outcomes including cerebrovascular and white matter lesions were dismissed as a primary or secondary outcome measure. Besides, there was a consensus regarding the importance of patient-related outcomes such as general quality of life, pain, and gastrointestinal symptoms. Also, unity about lysoGb3 and Gb3 tissue deposits as useful surrogate markers of the disease was obtained. The group recognised that cardiac T1 mapping still has potential but requires further development before its widespread introduction in clinical trials. Finally, patients with end-stage renal disease or renal transplant should be excluded unless a particular group for them is created inside the clinical trial. Conclusion: This consensus will help to shape the future of clinical trials in

Published
2021

22. Acute Cerebrovascular Disease in the Young: The Stroke in Young Fabry Patients Study

Author

Rolfs, Arndt, Fazekas, Franz, Grittner, Ulrike, Dichgans, Martin, Martus, Peter, Holzhausen, Martin, Böttcher, Tobias, Heuschmann, Peter U., Tatlisumak, Turgut, Tanislav, Christian, Jungehulsing, Gerhard J., Giese, Anne-Katrin, Putaala, Jukaa, Huber, Roman, Bodechtel, Ulf, Lichy, Christoph, Enzinger, Christian, Schmidt, Reinhold, Hennerici, Michael G., Kaps, Manfred, Kessler, Christof, Lackner, Karl, Paschke, Eduard, Meyer, Wolfgang, Mascher, Hermann, Riess, Olaf, Kolodny, Edwin, Norrving, Bo, Rolfs, A, Ginsberg, M, Hennerici, MG, Kessler, C, Kolodny, E, Martus, P, Norrving, B, Ringelstein, EB, Rothwell, PM, Venables, G, Bornstein, N, deDeyn, P, Dichgans, M, Fazekas, F, Markus, H, Rie, O, Biedermann, C, Böttcher, T, Brüderlein, K, Burmeister, J, Federow, I, König, F, Makowei, G, Niemann, D, Rolfs, A, Rösner, S, Zielke, S, Grittner, U, Martus, P, Holzhausen, M, Fazekas, F, Enzinger, C, Schmidt, R, Ropele, S, Windisch, M, Sterner, E, Bodamer, O, Fellgiebel, A, Hillen, U, Jonas, L, Kampmann, C, Kropp, P, Lackner, K, Laue, M, Mascher, H, Meyer, W, Paschke, E, Weidemann, F, Berrouschot, J, Stoll, A, Rokicha, A, Sternitzky, C, Thomä, M, DeDeyn, PP, Sheorajpanday, R, De Brabander, I, Yperzeele, L, Brouns, R, Oschmann, P, Pott, M, Schultes, K, Schultze, C, Hirsekorn, J, Jungehulsing, GJ, Villringer, A, Schmidt, W, Liman, T, Nowe, T, Ebinger, M, Wille, A, Loui, H, Objartel, A, übelacker, A, Mette, R, Jegzentis, K, Nabavi, DG, Crome, O, Bahr, D, Ebke, M, Platte, B, Kleinen, C, Mermolja Gunther, K, Heide, W, Pape, O, Hanssen, JR, Stangenberg, D, Klingelhofer, J, Schmidt, B, Schwarz, S, Schwarze, J, Frandlih, L, Iwanow, J, Steinbach, I, Krieger, D, Boysen, G, Leth Jeppesen, L, Petersen, A, Reichmann, H, Becker, U, Dzialkowski, I, Hentschel, H, Lautenschlager, C, Hanso, H, Gahn, G, Ziemssen, T, Fleischer, K, Sehr, B, McCabe, DJH, Tobin, O, Kinsella, J, Murphy, RP, Jander, S, Hartung, HP, Siebler, M, Bottcher, C, Kohne, A, Platzen, J, Brosig, TC, Rothhammer, V, Henseler, C, Neumann-Haefelin, T, Singer, OC, Ermis, U, dos Santos, IMRM, Schuhmann, C, van de Loo, S, Kaps, M, Allendorfer, J, Tanislav, C, Brandtner, M, Muir, K, Dani, K, MacDougall, N, Smith, W, Rowe, A, Welch, A, Fazekas, F, Schrotter, G, Krenn, U, Horner, S, Pendl, B, Pluta-Fuerst, A, Trummer, U, Kessler, C, Chatzopoulos, M, v Sarnowski, Bettina, Schminke, Ulf, Link, T, Khaw, A, Nieber, E, Zierz, S, Muller, T, Wegener, N, Wartenberg, K, Gaul, C, Richter, D, Rosenkranz, M, Krützelmann, AC, Hoppe, J, Choe, CU, Narr, S, Magnus, TU, Thomalla, G, Leypoldt, F, Otto, D, Lichy, C, Hacke, W, Barrows, RJ, Tatlisumak, T, Putaala, J, Curtze, S, Metso, M, Willeit, J, Furtner, M, Spiegel, M, Knoflach, MH, Prantl, B, Witte, OW, Brämer, D, Günther, A, Prell, T, Herzau, C, Aurich, K, Deuschl, G, Wodarg, F, Zimmermann, P, Eschenfelder, CC, Levsen, M, Weber, JR, Marecek, SM, Schneider, D, Michalski, D, Kloppig, W, Küppers-Tiedt, L, Schneider, M, Schulz, A, Matzen, P, Weise, C, Hobohm, C, Meier, H, Langos, R, Urban, D, Gerhardt, I, Thijs, V, Lemmens, R, Marcelis, E, Hulsbosch, C, Aichner, F, Haring, HP, Bach, E, Machado Candido, J, e Silva, AA, Lourenco, M, de Sousa, AIM, Derex, L, Cho, TH, Díez-Tejedor, E, Fuentes, B, Martínez-Sanchez, P, Pérez-Guevara, MI, Hamer, H, Metz, A, Hallenberger, K, Müller, P, Baron, P, Bersano, A, Gattinoni, M, Vella, N, Mallia, M, Jauss, M, Adam, L, Heidler, F, Gube, C, Kiszka, M, Dichgans, M, Karpinska, A, Mewald, Y, Straub, V, Dörr, A, Zollver, A, Ringelstein, EB, Schilling, M, Borchert, A, Preuth, N, Duning, T, Kuhlenbäumer, G, Schulte, D, Rothwell, PM, Marquardt, L, Schlachetzki, F, Boy, S, Mädl, J, Ertl, GM, Fehm, NPR, Stadler, C, Benecke, R, Dudesek, A, Kolbaske, S, Lardurner, G, Sulzer, C, Zerbs, A, Lilek, S, Walleczek, AM, Sinadinowska, D, Janelidze, M, Beridze, M, Lobjanidze, N, Dzagnidze, A, Melms, A, Horber, K, Fink, I, Liske, B, Ludolph, AC, Huber, R, Knauer, K, Hendrich, C, Raubold, S, Czlonkowska, A, Baranowska, A, Blazejewska-Hyzorek, B, Lang, W, Kristoferitsch, W, Ferrari, J, Ulrich, E, Flamm-Horak, A, Lischka-Lindner, A, Schreiber, W, Demarin, V, Tranjec, Z, Bosner-Puretic, M, Jurašić, MJ, Basic Kes, V, Budisic, M, and Kopacevic, L

Published
2013
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29. Spolien im Neubau. Das Prooimion von Eusebios' Kirchengeschichte im historiographischen Quervergleich

Author

Kampmann, Claudia, Volp, Ulrich, Wallraff, Martin, Winnebeck, Julia, Kampmann, C ( Claudia ), Volp, U ( Ulrich ), Wallraff, M ( Martin ), Winnebeck, J ( Julia ), Riedweg, Christoph, Kampmann, Claudia, Volp, Ulrich, Wallraff, Martin, Winnebeck, Julia, Kampmann, C ( Claudia ), Volp, U ( Ulrich ), Wallraff, M ( Martin ), Winnebeck, J ( Julia ), and Riedweg, Christoph

Abstract

The article tackles the intricate problem of how the proem of Eusebios' »Church History« relates to pagan historiography. As new as the project of the ›father‹ of »ecclesiastical historiography« may have been in principle: on a careful close reading and thorough cross comparison the proem reveals surprisingly many references to classical texts of ancient historiography, thus documenting Eusebios' familiarity with a literary tradition dating back to Herodotus and Thucydides.

Published
2020

30. The right ventricle in Fabry disease

Author

KAMPMANN, C., BAEHNER, F. A., WHYBRA, C., BAJBOUJ, M., BARON, K., KNUF, M., WIETHOFF, C. M., TRÜBEL, H., and BECK, M.

Published
2005

37. Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy : A 10-year fabry outcome survey (FOS) analysis

Author

Ramaswami, Uma, Beck, M., Hughes, D., Kampmann, C., Botha, J., Pintos-Morell, Guillem, West, M. L., Niu, D. M., Nicholls, K., Giugliani, R., and Universitat Autònoma de Barcelona

Subjects
Cardio-renal outcomes, Fabry disease, Enzyme replacement therapy, Agalsidase alfa
Abstract

Purpose: Following the publication of 5-year agalsidase alfa enzyme replacement therapy (ERT) outcomes data from the Fabry Outcome Survey (FOS), 10-year data were analyzed. Patients and methods: FOS (ClinicalTrials.gov identifier: NCT03289065) data (April 2001 to August 2018) were retrospectively analyzed. Estimated glomerular filtration rate (eGFR) and left ventricular mass indexed to height (LVMI) were analyzed after treatment start (baseline) for patients with ≥3 measurements, including baseline and year 10. Results: Median (range) age (years) of the evaluable treated renal cohort at treatment start was 48.8 (17.9-67.3) for females (n=62), 34.4 (18.0-66.8) for males (n=90). With eGFR ≥60 mL/min/1.73 m at baseline, mean (95% CI) rate of eGFR change (eGFR/year) over 10 years was relatively stable in females (n=52; −0.55 [−1.12, +0.01]) and slightly declined in males (n=79; −1.99 [−2.45, −1.54]). With impaired kidney function (eGFR 48 g/m in females, >50 g/m in males) at baseline, mean (95% CI) LVMI/year slightly increased over 10 years in females (n=18; +1.51 [+0.91, +2.12]) and males (n=14; +0.87 (+0.19, +1.55). Without LVH at baseline, mean (95% CI) LVMI/year was stable in females (n=16; +0.52 [−0.13, +1.17]) and males (n=21; +0.57 [+0.02, +1.13]) over 10 years. Conclusion: Agalsidase alfa-treated patients with 10-year FOS data and preserved kidney function and/or normal LVMI at baseline remained largely stable; those with decreased kidney function or LVH at baseline experienced modest declines in renal function and/or increases in LVMI.

Published
2019

41. Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10-Year Fabry Outcome Survey (FOS) Analysis

Author

Ramaswami, U, Beck, M, Hughes, D, Kampmann, C, Botha, J, Pintos-Morell, G, West, ML, Niu, D-M, Nicholls, K, Giugliani, R, Ramaswami, U, Beck, M, Hughes, D, Kampmann, C, Botha, J, Pintos-Morell, G, West, ML, Niu, D-M, Nicholls, K, and Giugliani, R

Abstract

PURPOSE: Following the publication of 5-year agalsidase alfa enzyme replacement therapy (ERT) outcomes data from the Fabry Outcome Survey (FOS), 10-year data were analyzed. PATIENTS AND METHODS: FOS (ClinicalTrials.gov identifier: NCT03289065) data (April 2001 to August 2018) were retrospectively analyzed. Estimated glomerular filtration rate (eGFR) and left ventricular mass indexed to height (LVMI) were analyzed after treatment start (baseline) for patients with ≥3 measurements, including baseline and year 10. RESULTS: Median (range) age (years) of the evaluable treated renal cohort at treatment start was 48.8 (17.9-67.3) for females (n=62), 34.4 (18.0-66.8) for males (n=90). With eGFR ≥60 mL/min/1.73 m2 at baseline, mean (95% CI) rate of eGFR change (eGFR/year) over 10 years was relatively stable in females (n=52; -0.55 [-1.12, +0.01]) and slightly declined in males (n=79; -1.99 [-2.45, -1.54]). With impaired kidney function (eGFR <60 mL/min/1.73 m2) at baseline, mean (95% CI) eGFR/year was stable in females (n=10; -0.14 [-1.43, +1.15]) and slightly declined in males (n=11; -2.79 [-4.01, -1.56]) over 10 years. Median (range) age (years) of the evaluable treated cardiac cohort at treatment start was 46.7 (3.7-67.3) for females (n=34), 28.2 (4.0-54.2) for males (n=35). With left ventricular hypertrophy (LVH; LVMI >48 g/m2.7 in females, >50 g/m2.7 in males) at baseline, mean (95% CI) LVMI/year slightly increased over 10 years in females (n=18; +1.51 [+0.91, +2.12]) and males (n=14; +0.87 (+0.19, +1.55). Without LVH at baseline, mean (95% CI) LVMI/year was stable in females (n=16; +0.52 [-0.13, +1.17]) and males (n=21; +0.57 [+0.02, +1.13]) over 10 years. CONCLUSION: Agalsidase alfa-treated patients with 10-year FOS data and preserved kidney function and/or normal LVMI at baseline remained largely stable; those with decreased kidney function or LVH at baseline experienced modest declines in renal function and/or increases in LVMI.

Published
2019

42. Early Outcomes of Percutaneous Pulmonary Valve Implantation Using the Edwards Sapien 3 Transcatheter Heart Valve System—German Experience

Author

Lehner, A., additional, Daskalova, T., additional, Ulrich, M., additional, Fernandez, S., additional, Schneider, H., additional, Tarusinov, G., additional, Kampmann, C., additional, Fischer, M., additional, Jakob, A., additional, Kantzis, M., additional, Kanaan, M., additional, Dalla-Pozza, R., additional, and Haas, A., additional

Published
2019
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43. Modified hemi-Fontan operation and subsequent nonsurgical Fontan completion

Author

Konertz, W., Schneider, M., Herwig, V., Kampmann, C., Waldenberger, F., and Hausdorf, G.

Subjects
Health
Abstract

Byline: W. Konertz, M. Schneider, V. Herwig, C. Kampmann, F. Waldenberger, G. Hausdorf Author Affiliation: Berlin, Germany Article Note: (footnote) [star] From the Departments of Cardiac Surgerya and Paediatric Cardiology,b Charite, Humboldt-University Berlin, Berlin, Germany., [star][star] J Thorac Cardiovasc Surg 1995;110:865-7, a 12/54/63064

Published
1995

44. Kidney transplantation in patients with Fabry disease

Author

Cybulla M, Walter KN, Schwarting A, Divito R, Feriozzi S, Sunder Plassmann G, Binder C, Kotanko P, Kroepfl T, Plecko B, Bodamer O, Hauser AC, Kleinert J, Kristoferitsch W, Schreiber W, Georges B, Nassogne MC, Pirson Y, Dehout F, Henry F, Roland D, Vauthier L, Goyens P, Mazoin N, Van Maldergem L, Eyskens F, Bultas J, Karetová D, Linhart A, Dostalova G, Choukroun G, Berthelot J, Hardy P, Carey Reomonnay S, Lacombe D, Bataille P, Benziane S, Mittelberger JM, Thevenot C, Dobbelaere D, Hachulla E, Dussol B, Reade R, Khau van Kien A, Kaminsky P, Guyot C, Lino M, Ghafari T, Germain DP, Knebelmann B, Lidove O, Ouali N, Touati G, Monlun E, Jaussaud R, Richalet B, Klotz V, Andres E, Caraman D, Bazex J, Perrichot R, Hennermann J, von Arnim Baas A, Stolz S, Hoffmann B, Chrobot E, Grabbe S, Jansen T, Neumann HP, Schluh G, Gal A, Muschol N, Shäfer E, Ullrich K, Das A, Illsinger S, Lücke T, Bähner F, Baron K, Beck M, Bruns K, Delgado Sanchez S, Hartung R, Kalkum G, Kampmann C, Keilmann A, Lackner K, Pitz S, Whybra C, Wiethoff C, Koletzko B, Pontz B, Böttcher T, Miethe S, Rolfs A, Davydenko I, Wanner C, Maródi L, Gabrielli O, Gobbi S, Concolino D, Zampetti A, Borsini W, Buchner S, Menni F, Parini R, Ravaglia R, Santus F, Di Vito R, Burlina A, Burlina AP, Manara R, Antuzzi D, Castorina M, Ricci R, Kaarbøe Ø, Skarbøvik A, Houge G, Svarstad E, Tøndel C, Barba MA, Botella R, Franco A, Torras J, Gómez Huertas E, Torregrosa V, Fernández V, Paniagua J, Rodriguez F, Herrera J, Febrer I, Perez Garcia A, Martin I, Barbado FJ, Garcia de Lorenzo A, López M, González J, Ballarin J, Torra R, Hernández S, Ara J, Bonal J, Pintos G, Andreu J, Rivera A, Oqvist B, Huyen Do U, Barbey F, Hayoz D, Theytaz J, Schärer M, Schulthess G, Steinmann B, Walter K, Widmer U, Hollak C, Ormel E, van Duinen A, Vetter A, Corcoran M, Cox TM, Deegan P, Ramaswami U, Wright N, Baker R, Blincoe M, Bruce R, Burns A, Close L, Davey C, Elliott J, Elliott P, Evans S, Ginsberg L, Hajioff D, Hughes D, Ioannidis A, Keshav S, Mehta A, Milligan A, Orteu C, Richfield L., STRISCIUGLIO, PIETRO, Cybulla, M, Walter, Kn, Schwarting, A, Divito, R, Feriozzi, S, Sunder Plassmann, G, Binder, C, Kotanko, P, Kroepfl, T, Plecko, B, Bodamer, O, Hauser, Ac, Kleinert, J, Kristoferitsch, W, Schreiber, W, Georges, B, Nassogne, Mc, Pirson, Y, Dehout, F, Henry, F, Roland, D, Vauthier, L, Goyens, P, Mazoin, N, Van Maldergem, L, Eyskens, F, Bultas, J, Karetová, D, Linhart, A, Dostalova, G, Choukroun, G, Berthelot, J, Hardy, P, Carey Reomonnay, S, Lacombe, D, Bataille, P, Benziane, S, Mittelberger, Jm, Thevenot, C, Dobbelaere, D, Hachulla, E, Dussol, B, Reade, R, Khau van Kien, A, Kaminsky, P, Guyot, C, Lino, M, Ghafari, T, Germain, Dp, Knebelmann, B, Lidove, O, Ouali, N, Touati, G, Monlun, E, Jaussaud, R, Richalet, B, Klotz, V, Andres, E, Caraman, D, Bazex, J, Perrichot, R, Hennermann, J, von Arnim Baas, A, Stolz, S, Hoffmann, B, Chrobot, E, Grabbe, S, Jansen, T, Neumann, Hp, Schluh, G, Gal, A, Muschol, N, Shäfer, E, Ullrich, K, Das, A, Illsinger, S, Lücke, T, Bähner, F, Baron, K, Beck, M, Bruns, K, Delgado Sanchez, S, Hartung, R, Kalkum, G, Kampmann, C, Keilmann, A, Lackner, K, Pitz, S, Whybra, C, Wiethoff, C, Koletzko, B, Pontz, B, Böttcher, T, Miethe, S, Rolfs, A, Davydenko, I, Wanner, C, Maródi, L, Gabrielli, O, Gobbi, S, Concolino, D, Strisciuglio, Pietro, Zampetti, A, Borsini, W, Buchner, S, Menni, F, Parini, R, Ravaglia, R, Santus, F, Di Vito, R, Burlina, A, Burlina, Ap, Manara, R, Antuzzi, D, Castorina, M, Ricci, R, Kaarbøe, Ø, Skarbøvik, A, Houge, G, Svarstad, E, Tøndel, C, Barba, Ma, Botella, R, Franco, A, Torras, J, Gómez Huertas, E, Torregrosa, V, Fernández, V, Paniagua, J, Rodriguez, F, Herrera, J, Febrer, I, Perez Garcia, A, Martin, I, Barbado, Fj, Garcia de Lorenzo, A, López, M, González, J, Ballarin, J, Torra, R, Hernández, S, Ara, J, Bonal, J, Pintos, G, Andreu, J, Rivera, A, Oqvist, B, Huyen Do, U, Barbey, F, Hayoz, D, Theytaz, J, Schärer, M, Schulthess, G, Steinmann, B, Walter, K, Widmer, U, Hollak, C, Ormel, E, van Duinen, A, Vetter, A, Corcoran, M, Cox, Tm, Deegan, P, Ramaswami, U, Wright, N, Baker, R, Blincoe, M, Bruce, R, Burns, A, Close, L, Davey, C, Elliott, J, Elliott, P, Evans, S, Ginsberg, L, Hajioff, D, Hughes, D, Ioannidis, A, Keshav, S, Mehta, A, Milligan, A, Orteu, C, and Richfield, L.

Published
2009

45. Rumpfhypotonie als erster Hinweis auf einen Morbus Pompe

Author

Karabul, N., Gökce, S., Herzog, A., Kampmann, C., and Mengel, E.

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Einleitung: Üblicherweise werden infantile Verlaufsformen von Late-Onset Formen daran unterschieden, dass infantile Verlaufsformen mit einer Kardiomyopathie einhergehen. Unser Fall zeigt eine Manifestation im 1. Lebensjahr ohne Zeichen einer Kardiomyopathie. Case report: Im Alter von 3 Monaten[for full text, please go to the a.m. URL], Süddeutsche Tage der Kinder- und Jugendmedizin; 61. Jahrestagung der Süddeutschen Gesellschaft für Kinder- und Jugendmedizin und der Süddeutschen Gesellschaft für Kinderchirurgie und dem Berufsverband für Kinder- und Jugendärzte – Landesverband Bayern

Published
2012
Full Text
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46. M.Pompe im Kindesalter

Author

Hahn, A, Hennermann, J B, Marquardt, T, Huemer, M, Rohrbach, M, Müller-Felber, W, Mellies, U, Stehling, F, Kampmann, C, Mengel, E, University of Zurich, and Hahn, A

Subjects
10036 Medical Clinic, 610 Medicine & health, 2735 Pediatrics, Perinatology and Child Health, 2746 Surgery
Published
2012

48. International Guidelines for the Management and Treatment of Morquio A Syndrome

Author

Hendriksz, CJ, Berger, KI, Giugliani, R, Harmatz, P, Kampmann, C, Mackenzie, WG, Raiman, J, Solano Villarreal, M, Savarirayan, R, Hendriksz, CJ, Berger, KI, Giugliani, R, Harmatz, P, Kampmann, C, Mackenzie, WG, Raiman, J, Solano Villarreal, M, and Savarirayan, R

Abstract

Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients. Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists. The current paper presents international guidelines for the evaluation, treatment and symptom-based management of Morquio A syndrome. These guidelines were developed during two expert meetings by an international panel of specialists in pediatrics, genetics, orthopedics, pulmonology, cardiology, and anesthesia with extensive experience in managing Morquio A syndrome.

Published
2015

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