Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Agnė Čerkauskaitė"'
Autor:
Agne Cerkauskaite, Judy Savige, Karolina Janonyte, Ieva Jeremiciute, Marius Miglinas, Edita Kazenaite, Arvydas Laurinavicius, Rasa Strupaite-Sileikiene, Vija Vainutiene, Birute Burnyte, Augustina Jankauskiene, Arndt Rolfs, Peter Bauer, Sabine Schröder, Rimante Cerkauskiene
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
Introduction:Alport syndrome (AS) is an inherited disorder characterized by hematuria, proteinuria, and kidney function impairment, and frequently associated with extrarenal manifestations. Pathogenic variants in COL4A5 usually cause X-linked Alport
Externí odkaz:
https://doaj.org/article/dad4ec58e01a4765bf119982d7b752e9
Autor:
Monika Vitkauskaitė, Artūras Vinikovas, Marius Miglinas, Laurynas Rimševičius, Agnė Čerkauskaitė, Ernesta Mačionienė, Eglė Ašakienė
Publikováno v:
Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract Our case series showed that eculizumab is efficacious and safe in treating thrombotic microangiopathy, as well as it has positive effects on quality of life. Further extensive studies are required to develop unified treatment guidelines.
Externí odkaz:
https://doaj.org/article/7a9d35369a144469b3537af2f4b748e6
Publikováno v:
Reports, Vol 5, Iss 4, p 50 (2022)
Dent disease is a rare renal tubular disorder that appears almost exclusively in males. The diagnosis is still challenging, and therefore Dent disease is occasionally misdiagnosed. We report a case of a 45-year-old man with Dent disease who developed
Externí odkaz:
https://doaj.org/article/76537ad680ed491eb40bef038ac47a3a
Autor:
Agnė Čerkauskaitė, Rimantė Čerkauskienė, Marius Miglinas, Arvydas Laurinavičius, Can Ding, Arndt Rolfs, Lina Vencevičienė, Jūratė Barysienė, Edita Kazėnaitė, Eglė Sadauskienė
Publikováno v:
Medicina, Vol 55, Iss 5, p 122 (2019)
Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disea
Externí odkaz:
https://doaj.org/article/f635e65036fa4506befa8ce45e9946cf
Autor:
Monika Vitkauskaitė, Artūras Vinikovas, Marius Miglinas, Laurynas Rimševičius, Agnė Čerkauskaitė, Ernesta Mačionienė, Eglė Ašakienė
Our case series showed that eculizumab is efficacious and safe in treating atypical hemolytic-uremic syndrome, as well as it has positive effects on quality of life. Further extensive studies are required to develop unified treatment guidelines.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0be149b744b9ada3273ba2c6c225079c
https://doi.org/10.22541/au.163338587.71549695/v1
https://doi.org/10.22541/au.163338587.71549695/v1
Publikováno v:
Medicinos teorija ir praktika. 22:382-388
Reikšminiai žodžiai: Fabry liga, lizosomų kaupimo liga, lėtinė inkstų liga, pakaitinė fermentų terapija. Fabry liga – tai reta su X chromosoma paveldima liga, lemianti lizosomų fermento alfa-galaktozidazės A trūkumą, dėl kurio įvairi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83b1196a8cbd52d3c8d0072bc4e04c58
https://doi.org/10.15591/mtp.2016.062
https://doi.org/10.15591/mtp.2016.062
Autor:
Agnė Čerkauskaitė, Jolanta Repeikaitė, Marius Miglinas, Ernesta Mačionienė, Rimantė Čerkauskienė
Publikováno v:
Medicinos teorija ir praktika. 22:249-252
Reikšminiai žodžiai: tuberozinės sklerozės kompleksas, inksto pažeidimas. Tikslas. Nustatyti su tuberozinės sklerozės kompleksu susijusį inkstų pažeidimo dažnį ir įvertinti klinikinį pasireiškimą. Medžiaga ir metodai. Retrospektyvia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1e556a4a5ae8c1097681d3aea7f96f44
https://doi.org/10.15591/mtp.2016.040
https://doi.org/10.15591/mtp.2016.040
Publikováno v:
Medicinos teorija ir praktika. 21:675-682
Reikšminiai žodžiai: trombinės mikroangiopatijos, HUS, aHUS, komplementas, ADAMTS-13. Trombinės mikroangiopatijos (TMA) – tai grupė sindromų, pasireiškiančių trombocitopenija, mikroangiopatine hemolizine anemija ir smulkiųjų kraujagysli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42de87ee0e4f9139040d1920abf3af49
https://doi.org/10.15591/mtp.2015.105
https://doi.org/10.15591/mtp.2015.105
Autor:
Joel T. Gibson, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla, Hansjörg Rothe, Pascale Hilbert, Constantinos Deltas, Helen Storey, Beata S. Lipska-Ziętkiewicz, Melanie M. Y. Chan, Omid Sadeghi-Alavijeh, Daniel P. Gale, Genomics England Research Consortium, Agne Cerkauskaite, Judy Savige
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract Alport syndrome is the commonest inherited kidney disease and nearly half the pathogenic variants in the COL4A3–COL4A5 genes that cause Alport syndrome result in Gly substitutions. This study examined the molecular characteristics of Gly s
Externí odkaz:
https://doaj.org/article/864c1ed9fcad4e3fa88284e259fc2a5f