Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Ana Jovanovıć"'
Autor:
Reena Sharma, John Bassett, Karolina M. Stepien, Andrew Oldham, Ana Jovanovic, Alison Woodall, Diane Green
Publikováno v:
JIMD Reports, Vol 65, Iss 6, Pp 382-391 (2024)
Abstract Background The clinical presentation of ARG1‐D is characterised by elevated arginine levels leading to neurological and mobility impairments. Information about long‐term outcomes in adults is lacking, which prompted us to undertake a ret
Externí odkaz:
https://doaj.org/article/1046e8b567b148329989c95b38ab4eb5
Autor:
Ana Jovanovic, Eve Miller-Hodges, Felicia Castriota, Shweta Takyar, Heena Howitt, Olulade Ayodele
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-37 (2024)
Abstract Background Fabry disease (FD) is a rare lysosomal storage disease associated with glycolipid accumulation that impacts multiple physiological systems. We conducted a systematic literature review (SLR) to characterize the humanistic (quality
Externí odkaz:
https://doaj.org/article/145e1028133243a0aaf53d5d956f33d9
Autor:
Kirsty Dickson, Henry H. L. Wu, Reena Sharma, Karolina M. Stepien, Ana Jovanovic, Rajkumar Chinnadurai
Publikováno v:
Medicina, Vol 60, Iss 11, p 1733 (2024)
Background and Objectives: Inherited metabolic disorders (IMDs), primarily cystinosis, Fabry disease, and methylmalonic acidemia (MMA), are genetic conditions that typically result in multi-organ disease manifestations. Kidney function progressively
Externí odkaz:
https://doaj.org/article/1ef5d4f264a54cc5b8d36290ac429648
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
Autor:
Ben Haycroft, Abigail Stevenson, Richard Stork, Stuart Gaffney, Philip Morgan, Karl Patterson, Ana Jovanovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)
Abstract Background Fabry disease is a rare, progressive X-linked lysosomal storage disorder. It is caused by mutations in the GLA gene resulting in deficiency of α-galactosidase A (α-Gal A), leading to peripheral neuropathy, cardiovascular disease
Externí odkaz:
https://doaj.org/article/573d203946b24b62b1a3f2c4c1a8911e
Autor:
Karolina M. Stepien, Alexander Broomfield, Duncan Cole, Patrick B. Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir, Uma Ramaswami
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people with Fabry disease ar
Externí odkaz:
https://doaj.org/article/9bce522b34f64580a10095f385fbaf59
Autor:
Ashwin Roy, Ravi Vijapurapu, Hibba Kurdi, Christopher Orsborne, Peter Woolfson, Manish Kalla, Ana Jovanovic, Christopher A. Miller, James C. Moon, Derralynn A. Hughes, Tarekegn Geberhiwot, Richard P. Steeds
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
Fabry disease (FD) is an X-linked deficiency of alpha-galactosidase-A, leading to lysosomal storage of sphingolipids in multiple organs. Myocardial accumulation contributes to arrhythmia and sudden death, the most common cause of FD mortality. Theref
Externí odkaz:
https://doaj.org/article/13d803830aff4ff8874eea70c7935997
Autor:
Christopher Orsborne, MBChB, Jose M. Anton-Rodrigez, PhD, Neal Sherratt, BS, Amy Watkins, BS, Maelene Lohezic, PhD, David Clark, BSc, William Lloyd, PhD, Josephine H. Naish, PhD, Peter Woolfson, MD, Anna B. Reid, PhD, Matthias Schmitt, PhD, Sivakumar Muthu, MD, Parthiban Arumugam, MD, Ana Jovanovic, MD, Christopher A. Miller, PhD
Publikováno v:
JACC: Case Reports, Vol 15, Iss , Pp 101863- (2023)
Using hybridized [18F]-fluorodeoxyglucose positron emission tomography with cardiac magnetic resonance, we identify active myocardial inflammation and demonstrate its relationship with late gadolinium enhancement, in Fabry disease. We demonstrate tha
Externí odkaz:
https://doaj.org/article/a3e29921f8234d87937a8d2685c20666
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:
Ivana Radovic, Igor Krdzic, Ana Jovanovic, Danka Vukasinovic, Ivan Soldatovic, Masa Petrovic, Ana Tomic, Tanja Jesic-Petrovic, Aleksandar Matejic, Bojana Salovic, Ilic-Zivojinovic Jelena
Publikováno v:
PLoS ONE, Vol 18, Iss 11, p e0294339 (2023)
ObjectiveTranscultural adaptation and validation of FACIT-TS-PS questionnaire to Serbian language.MethodsStandard forward and backward translation from English to Serbian language was performed. Pilot testing of FACIT-TS-PS was conducted on 12 patien
Externí odkaz:
https://doaj.org/article/9c79bb721b824fb18ed846c76d99ae31