Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Katarína Skalická"'
Autor:
Gabriela Hrčková, Eszter Hegyi, Katarína Skalická, Iveta Čierna, Tomáš Dallos, Denisa Ilenčíková
Publikováno v:
Nefrología, Vol 40, Iss 3, Pp 351-355 (2020)
Introduction: In children, chronic pancreatitis (CP) is usually associated with anatomical anomalies of the pancreas and biliary tract or is genetically determined. Autosomal dominant polycystic kidney disease (ADPKD) may present with extrarenal cyst
Externí odkaz:
https://doaj.org/article/5ecd34398be94e8daf8864b6439e205b
Autor:
Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák, Mária Šedivá, Sergej Šesták, Filip Květoň, Gábor Beke, Anna Šalingová, Katarína Skalická, Katarína Brennerová, Emília Jančová, Peter Baráth, Ján Mucha, Marek Nemčovič
Publikováno v:
Biomedicines, Vol 11, Iss 2, p 580 (2023)
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by a defect in the process of protein glycosylation. In this work, we present a comprehensive glycoprofile analysis of a male patient with a novel mi
Externí odkaz:
https://doaj.org/article/b8f285849fce43669acafaebbecacf11
Publikováno v:
Urologie pro praxi. 21:160-165
Zavažne formy polycystických obliciek so skorým nastupom v detskom veku predstavuju rozsiahlu skupinu ochoreni s prekrývajucim sa klinickým prejavom. Charakteristickým znakom su zvacsene oblicky so zniženou funkciou, ktore možu byť v prenata
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42f9043f62da152ebc9c89bc0bded68b
https://doi.org/10.36290/uro.2020.031
https://doi.org/10.36290/uro.2020.031
Autor:
Tomáš Dallos, Katarína Skalická, Eszter Hegyi, Iveta Čierna, Gabriela Hrčková, Denisa Ilencikova
Publikováno v:
Nefrología, Vol 40, Iss 3, Pp 351-355 (2020)
Nefrología (English Edition), Vol 40, Iss 3, Pp 351-355 (2020)
Nefrología (English Edition), Vol 40, Iss 3, Pp 351-355 (2020)
Introduction: In children, chronic pancreatitis (CP) is usually associated with anatomical anomalies of the pancreas and biliary tract or is genetically determined. Autosomal dominant polycystic kidney disease (ADPKD) may present with extrarenal cyst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ae78646a676b3a7982dd0531376e09e
https://doi.org/10.1016/j.nefroe.2020.06.002
https://doi.org/10.1016/j.nefroe.2020.06.002
Publikováno v:
World Journal of Nephrology
AIM To evaluate the genetic defects of ciliary genes causing the loss of primary cilium in autosomal dominant polycystic kidney disease (ADPKD). METHODS We analyzed 191 structural and functional genes of the primary cilium using next-generation seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c75dcdc1be3d35e14862565804bcea30
http://europepmc.org/articles/PMC5838416
http://europepmc.org/articles/PMC5838416
Autor:
László Kovács, Katarína Skalická
Publikováno v:
Journal of Genetic Syndromes & Gene Therapy. 7
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disease which affects nearly 12 million people in the world. Despite the intensive development of new treatment options, hemodialysis and renal replacement therapy remain the only effe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::952e256bfd17a1785e62e15728151ccd
https://doi.org/10.4172/2157-7412.1000310
https://doi.org/10.4172/2157-7412.1000310