Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Bojan Vujkovac"'
Autor:
Aleš Linhart, Gabriela Dostálová, Kathy Nicholls, Michael L. West, Camilla Tøndel, Ana Jovanovic, Pilar Giraldo, Bojan Vujkovac, Tarekegn Geberhiwot, Einat Brill-Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, Derralynn Hughes
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Pegunigalsidase alfa is a novel, PEGylated α-galactosidase-A enzyme-replacement therapy approved in the EU and US to treat patients with Fabry disease (FD). Objective/methods BRIDGE is a phase 3 open-label, switch-over study desi
Externí odkaz:
https://doaj.org/article/08a93d1d21254bb38a521c49dce3c679
Publikováno v:
Biomedicines, Vol 12, Iss 8, p 1724 (2024)
Fabry disease (FD) leads to significant morbidity and mortality, which may indicate accelerated ageing. However, it is still unclear whether there is a relationship between telomere length (TL), a marker of biological ageing, and disease outcome. We
Externí odkaz:
https://doaj.org/article/b2607e0311bc4c6fb25214e7ee2ff0b5
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
IntroductionEarly initiation is essential for successful treatment of Fabry disease, but sensitive and noninvasive biomarkers of Fabry nephropathy are lacking. Urinary extracellular vesicles (uEVs) represent a promising source of biomarkers of kidney
Externí odkaz:
https://doaj.org/article/ebf1a77f62fd4f9fab208476575434a5
Autor:
Derralynn A. Hughes, Patrício Aguiar, Olivier Lidove, Kathleen Nicholls, Albina Nowak, Mark Thomas, Roser Torra, Bojan Vujkovac, Michael L. West, Sandro Feriozzi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)
Abstract Background Variable disease progression confounds accurate prognosis in Fabry disease. Evidence supports the long-term benefit of early intervention with disease-specific therapy, but current guidelines recommend treatment initiation based o
Externí odkaz:
https://doaj.org/article/66f3ce4b9015408285a03a7d52421b7d
Autor:
John Bernat, Eric Wallace, Ozlem Goker-Alpan, William Wilcox, Myrl Holida, Nicola Longo, Derralynn Hughes, Pilar Giraldo, Maria Molnar, Damara Ortiz, Robert Hopkin, Camilla Tondel, Ales Linhart, Patrick Deegan, Ana Jovanovic, Michael Muriello, Bruce Barshop, Virginia Kimonis, Bojan Vujkovac, Albina Nowak, Tarekegn Hiwot, Antonio Pisani, Dominique Germain, Ilkka Kantola, Jasmine Knoll, Ankit Mehta, Stephen Waldek, Einat Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, David Warnock
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100015- (2023)
Externí odkaz:
https://doaj.org/article/343c76656a104fd8b64b93bc346cad1b
Autor:
Christoph Wanner, Ulla Feldt‐Rasmussen, Ana Jovanovic, Aleš Linhart, Meng Yang, Elvira Ponce, Eva Brand, Dominique P. Germain, Derralynn A. Hughes, John L. Jefferies, Ana Maria Martins, Albina Nowak, Bojan Vujkovac, Frank Weidemann, Michael L. West, Alberto Ortiz
Publikováno v:
ESC Heart Failure, Vol 7, Iss 3, Pp 825-834 (2020)
Abstract Aims Long‐term treatment effect studies in large female Fabry patient groups are challenging to design because of phenotype heterogeneity and lack of appropriate comparison groups, and have not been reported. We compared long‐term cardio
Externí odkaz:
https://doaj.org/article/d245bf80912e439eb9ef9a86af5c8b32
Autor:
James C Moon, Albina Nowak, Derralynn A Hughes, Mark Thomas, Raphael Schiffmann, Ales Linhart, David G Warnock, Sandro Feriozzi, Patricio Aguiar, Patrick B Deegan, Fatih Ezgu, Andrea Frustaci, Olivier Lidove, Jean-Claude Lubanda, Kathleen Nicholls, Dau-Ming Niu, Uma Ramaswami, Ricardo Reisin, Paula Rozenfeld, Einar Svarstad, Roser Torra, Bojan Vujkovac, Michael L West, Jack Johnson, Mark J Rolfe
Publikováno v:
BMJ Open, Vol 10, Iss 10 (2020)
Objectives The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatmen
Externí odkaz:
https://doaj.org/article/d715f78e37c54b91a11df4c1b094fbaf
Autor:
Bojan Vujkovac, Mišo Šabovič, Franc Verovnik, Davorin Benko, Andreja Cokan, Milan Špegel, Jožica Kotnik, Franc Kotnik, Ivo Rubin, Derralyn A. Hughes
Publikováno v:
Zdravniški Vestnik, Vol 75, Iss 12 (2006)
Background: Fabry disease is a rare X-chromosome linked disease. Due to gene mutation, activity of enzyme α galactosidase A is lowered or absent and sphingolipids are deposited in different organ cells. All males with gene mutation are affected but
Externí odkaz:
https://doaj.org/article/38a53ce296a04faeb764890492f5de38
Publikováno v:
Zdravniški Vestnik, Vol 71, Iss 1 (2002)
Background. Fulminant meningococcemia is a rare but severest manifestation of infection with Neisseria meningitidis. Despite the most advanced treatment the death rate remains between 30–70%. Usually, it occurs in children, while immune system defi
Externí odkaz:
https://doaj.org/article/56731c0cd8414a18824ff81a85c22a51
Publikováno v:
Zdravniški Vestnik, Vol 71, Iss 1 (2002)
Background. Male patients with end stage renal disease often report erectile dysfunction, which is very common especially in younger males. Impotence is reported to exceed 50% in male chronic renal failure patients, and is present in 65% of such pati
Externí odkaz:
https://doaj.org/article/90d3e958d4a243d7a9967076cd62163d