Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ludmila, Podracká"'
Autor:
Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesit
Externí odkaz:
https://doaj.org/article/430cf243a6be4a2283a903b579084f56
Autor:
Simone Bressan, Leonardo Gatticchi, Paolo Enrico Maltese, Leonardo Colombo, Ludmila Podracká, Vanda Rísová, Luca De Antoni, Kaie Jaakson, Mari Mällo, Jan Miertus, Lucia Piteková, Matteo Bertelli, Kairit Joost
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insuli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a273267c60b6b6aad98a1b48480f8afd
http://europepmc.org/articles/PMC7460749
http://europepmc.org/articles/PMC7460749
Autor:
Johnson S, Stojanovic J, Ariceta G, Bitzan M, Besbas N, Frieling M, Karpman D, Landau D, Langman C, Licht C, Pecoraro C, Riedl M, Siomou E, van de Kar N Walle JV, Loirat C, Taylor CM, Anne-Laure Adra, Klaus Arbeiter, Yelda Bilginer, Heiko Billing, Maria Bitsori, Bernard Boudailliez, Francisco de la Cerda – Ojeda, Gérard Champion, Amit Dagan, Bradley Dixon, Philippe Eckart, Israel Eisenstein, Arnaud Garnier, Clara Gomes, Karsten Häffner, Jerome Harambat, Carol Inward, Rafael Krmar, Theresa Kwon, Anne-Laure Lapeyraque, Sebastian Loos, Meeta Malik, Mignon McCulloch, David Milford, Danko Milosevic, Carla Nester, François Nobili, Pedro J Ortega, Fotios Papachristou, Antonia Peña - Carrión, Ludmila Podracká, Nikoleta Printza, Bruno Ranchin, Christopher Reid, Caroline Rousset-Rouvière, Rémi Salomon, Anne-Laure Sellier-Leclerc, James Springate, Sophie Taque, Despoina Tramma, Sibylle Tschumi, Ulrike Walden, Kay Tyerman, Aoife Waters, Donald J Weaver Jr
Publikováno v:
Pediatric Nephrology, 29, 10, pp. 1967-78
Pediatric Nephrology, 29, 1967-78
Pediatric Nephrology, 29, 1967-78
Item does not contain fulltext BACKGROUND: In 2009, the European Paediatric Study Group for Haemolytic Uraemic Syndrome (HUS) published a clinical practice guideline for the investigation and initial therapy of diarrhea-negative HUS (now more widely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7cfc2ff06baa3cd6fd37ac75199a0be
https://hdl.handle.net/2066/138690
https://hdl.handle.net/2066/138690
Autor:
Karlijn J, van Stralen, Leah, Krischock, Franz, Schaefer, Enrico, Verrina, Jaap W, Groothoff, Jonathan, Evans, James, Heaf, Dimitar, Ivanov, Mirjana, Kostic, Silvio, Maringhini, Ludmila, Podracká, Nikoleta, Printza, Birute, Pundziene, Gyorgy S, Reusz, Karel, Vondrak, Kitty J, Jager, E Jane, Tizard, C, Inward
Publikováno v:
Nephrology, dialysis, transplantation, 27(10), 3950-3957. Oxford University Press
Background. Anaemia is a common and potentially treatable co-morbidity of end-stage renal disease. We aimed to determine the prevalence of the sub-target haemoglobin (Hb) level among European children on dialysis and to identify factors associated wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0683a0639968b5fb8ec03a7910e0c63
https://pubmed.ncbi.nlm.nih.gov/22740719
https://pubmed.ncbi.nlm.nih.gov/22740719
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