Zobrazeno 1 - 10
of 672
pro vyhledávání: '"E Landau"'
Autor:
Eyal Kristal, Ben Pode-Shakked, Guy Hazan, Ehud Banne, Galina Ling, Odeya David, Eilon Shany, Annick Raas-Rothschild, Yair Anikster, Katya Kneller, Eli Hershkovitz, Yuval E. Landau, Ronen Spiegel, Yoav Zehavi, Orna Staretz-Chacham
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)
Abstract Background Severe acute respiratory syndrome coronavirus 2 (SARS CoV-2) is the causative agent of the current COVID-19 pandemic. Lysosomal storage disorders (LSD) comprise of 70 inherited inborn errors of metabolism. Affected individuals suf
Externí odkaz:
https://doaj.org/article/8b5cbfe869724833b439ca921dcf05fd
Autor:
M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. Knerr, P. Labrune, Y. E. Landau, J. G. Langendonk, D. Möslinger, D. Müller-Wieland, E. Murphy, K. Õunap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to t
Externí odkaz:
https://doaj.org/article/20f1c5ba16b242a794c606a704d94859
Autor:
Yuval E. Landau, Gali Heimer, Ortal Barel, Nechama Shalva, Dina Marek-Yagel, Alvit Veber, Elisheva Javasky, Aya Shilon, Andreea Nissenkorn, Bruria Ben-Zeev, Yair Anikster
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100631- (2020)
Introduction: Peroxisomal D-bifunctional protein (DBP) deficiency is an autosomal recessive disorder historically described as a Zellweger-like syndrome comprising neonatal seizures, retinopathy, hearing loss, dysmorphic features, and other complicat
Externí odkaz:
https://doaj.org/article/0fd48940702143a7b1fbf682d3044bff
Publikováno v:
European Urology Open Science, Vol 19, Iss , Pp e1511- (2020)
Externí odkaz:
https://doaj.org/article/6fd17923b131437294f0a52c0d875e3b
Autor:
Shiri, Cooper, Ana, Tobar, Osnat, Konen, Naama, Orenstein, Nesia, Kropach Gilad, Yuval E, Landau, Yael, Mozer-Glassberg, Michal Rozenfeld, Bar-Lev, Ron, Shaoul, Raanan, Shamir, Orith, Waisbourd-Zinman
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 75:244-251
Severe acute respiratory syndrome coronavirus 2, the novel coronavirus responsible for coronavirus disease (COVID-19), has been a major cause of morbidity and mortality worldwide. Gastrointestinal and hepatic manifestations during acute disease have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::579f229060429d0e870971f39c152995
https://doi.org/10.1097/mpg.0000000000003521
https://doi.org/10.1097/mpg.0000000000003521
Autor:
Jonathan Naftali, Maor Mermelstein, Yuval E. Landau, Rani Barnea, Shahar Shelly, Eitan Auriel, Shlomi Peretz
Publikováno v:
Acta Neurologica Belgica.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09a2855c59d8e1a32932a4ab7597dac5
https://doi.org/10.1007/s13760-023-02196-z
https://doi.org/10.1007/s13760-023-02196-z
Autor:
Nimrod Sachs, Oded Wechsberg, Yuval E. Landau, Irit Krause, Ifat Israel Elgali, Malak Darawshe, Noam Shomron, Gabriel Lidzbarsky, Naama Orenstein
Publikováno v:
Gene. 874:147483
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb6531b78422316b7318a9bd0405bf56
https://doi.org/10.1016/j.gene.2023.147483
https://doi.org/10.1016/j.gene.2023.147483
Akademický článek
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Autor:
Georg F. Vogel, Yael Mozer-Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger, Johannes A. Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S. Alkuraya, Joshua J. Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M. Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A. Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D. Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert McFarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W. Taylor, David R. Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann
Publikováno v:
Genetics in Medicine, 25, 6
Genet. Med., 100314 (2022)
Genetics in Medicine, 25
Genet. Med., 100314 (2022)
Genetics in Medicine, 25
Purpose: The study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and to determine the role of cysteine supplementation in its treatment. Meth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d2d162b7b4a0245f739ac55e7b742a
https://doi.org/10.1016/j.gim.2022.09.015
https://doi.org/10.1016/j.gim.2022.09.015
Autor:
E. Landau, H. Levine, H. Mantin, D. Serfarty, D. Kadosh, O. Bar On, M. Mei Zahav, H. Mussaffi, H. Blau, D. Prais
Publikováno v:
Journal of Cystic Fibrosis. 21:S39-S40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b35c7ab3d3498c6efed504133aed261c
https://doi.org/10.1016/s1569-1993(22)00269-7
https://doi.org/10.1016/s1569-1993(22)00269-7