Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Ilkka Kantola"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Background Fabry disease (FD) is caused by a defect in α‐galactosidase A gene (GLA) which leads to a progressive accumulation of neutral shingolipids, mainly globotriaosylceramide and its metabolites in several organs. Pulmonary manifesta
Externí odkaz:
https://doaj.org/article/a76af33e41124870bcbce2226ec05a2e
Autor:
Lorenzo Monserrat, Maurizio Pieroni, Dominique P. Germain, Michael Arad, Renzo Mignani, Derralynn Hughes, Ralf Baron, Victor Fomin, Frank Weidemann, Alberto Ortiz, Albina Nowak, Miguel Viana-Baptista, Marco Spada, Alessandro P. Burlina, Aleš Linhart, João Paulo Oliveira, Christoph Wanner, Ana Jovanovic, Ilkka Kantola, Ulla Feldt-Rasmussen, Perry M. Elliott, Camilla Tøndel, Mehdi Namdar, Anna Tylki-Szymańska, Max J. Hilz
Publikováno v:
Molecular Genetics and Metabolism. 124:189-203
Background Fabry disease, an inherited lysosomal storage disorder, causes multi-organ pathology resulting in substantial morbidity and a reduced life expectancy. Although Fabry disease is an X-linked disorder, both genders may be affected, but genera
Autor:
Ilkka Kantola
Publikováno v:
Nephrology Dialysis Transplantation. 34:1435-1437
Autor:
Dominique P. Germain, Aleš Linhart, Behzad Najafian, Kathy Nicholls, Michael West, Robert J. Hopkin, Renzo Mignani, Antonio Pisani, Stephen Waldek, Camilla Tøndel, Jeffrey B. Kopp, Wim Terryn, Uma Ramaswami, Greg T. Obrador, Gabor E. Linthorst, Atul Mehta, Sandro Feriozzi, Carla E. M. Hollak, Jerry Walter, Christoph Wanner, João Paulo Oliveira, Derralynn Hughes, Juan Politei, Agnes B. Fogo, Daniel G. Bichet, Ana Maria Martins, Roser Torra, Bojan Vujkovac, Ricardo Correa-Rotter, Alberto Ortiz, Ilkka Kantola, Raphael Schiffmann, John Asher Johnson, Einar Svarstad, David G. Warnock, Dietrich Matern, Markus Ries, Perry M. Elliott, Ichiei Narita, Erik Ilsø Christensen, Jürgen Kröner
Publikováno v:
Schiffmann, R, Hughes, D A, Linthorst, G E, Ortiz, A, Svarstad, E, Warnock, D G, West, M L, Wanner, C & Conference Participants (Erik Ilsø Christensen, conference participant) 2017, ' Screening, diagnosis, and management of patients with Fabry disease : conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference ', Kidney International. Supplement, vol. 91, no. 2, pp. 284-293 . https://doi.org/10.1016/j.kint.2016.10.004
Patients with Fabry disease (FD) are at a high risk for developing chronic kidney disease and cardiovascular disease. The availability of specific but costly therapy has elevated the profile of this rare condition. This KDIGO conference addressed con
Autor:
Miguel Viana-Baptista, Mehdi Namdar, Aleš Linhart, João Paulo Oliveira, Maurizio Pieroni, Christoph Wanner, Dominique P. Germain, Albina Nowak, Victor Fomin, Marco Spada, Ana Jovanovic, Bruno Falissard, Ilkka Kantola, Perry M. Elliott, Max J. Hilz, Renzo Mignani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 19, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Background Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4289c82e9582d03c67d4573c96f5914f
https://www.zora.uzh.ch/id/eprint/171593/
https://www.zora.uzh.ch/id/eprint/171593/
Autor:
Aki Hietaharju, Jukka T. Saarinen, Taru Kantola, Agneta Ekstrand, Kristiina Kananen, Antti-Pekka Annala, Jorma O. Kokkonen, Ilkka Kantola, Tiina Heliö, Miia Rainto, Jyrki Taurio, Lorenzo Sandini, Päivi Pietilä-Effati, Anne Karhu, Susanne Walls, Johanna Kuusisto, Iina Yliaska, Kati Valtola
Publikováno v:
Molecular Genetics and Metabolism. 129:S83
Autor:
Pentti J. Tienari, Lorenzo Sandini, Antti-Pekka Annala, Kristiina Kananen, Agneta Ekstrand, Jorma O. Kokkonen, Päivi Pietilä-Effati, Kati Valtola, Aki Hietaharju, Susanne Walls, Anne Karhu, Jyrki Taurio, Iina Yliaska, Olavi Ukkola, Markku J. Savolainen, Johanna Kuusisto, Ilkka Kantola, Miia Rainto, Jukka T. Saarinen, Taru Kantola, Tiina Heliö
Publikováno v:
Molecular Genetics and Metabolism. 126:S81-S82
Enzyme replacement therapy (ERT) has stabilized renal function but its effect on proteinuria is inconsistent. Also nephroprotective renin-angiotensin-aldosterone system (RAAS) inhibition is warranted. We calculated eGFR using CKD-EPI formula and albu
Autor:
Robert J. Hopkin, Eva Brand, Ana Jovanovic, Dominique P. Germain, Amel Karaa, Nathalie Guffon, Ana Maria Martins, Ilkka Kantola, Ulla Feldt Rasmussen, Han-Wook Yoo, William R. Wilcox, Roberta Lemay
Publikováno v:
Molecular Genetics and Metabolism. 120:S65-S66
Autor:
Jyrki Taurio, Antti-Pekka Annala, Ilkka Kantola, Jorma O. Kokkonen, Kristiina Kananen, Tiina Heliö, Anne Karhu, Lorenzo Sandini, Markku J. Savolainen, Jukka T. Saarinen, Kati Valtola, Taru Kantola, Aki Hietaharju, Miia Rainto, Susanne Walls, Päivi Pietilä-Effati, Johanna Kuusisto, Pentti J. Tienari
Publikováno v:
Molecular Genetics and Metabolism. 120:S73-S74
Autor:
Jörg Strotmann, Michael West, Jose A. Tallaj, Manesh R. Patel, Marta Cizmarik, Ademola K. Abiose, Dana Beitner-Johnson, Franco Cecchi, Ilkka Kantola, Kathy Nicholls, Thi Chien Tran, Aleš Linhart
Publikováno v:
Journal of the American College of Cardiology. 57:1093-1099
Objectives These analyses were designed to determine the incidence of major cardiovascular (CV) events and the natural history of CV complications in patients with Fabry disease. Background Fabry disease, a genetic disorder caused by deficiency of al