Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Sali Usher"'
Autor:
Hava Peretz, Michael Korostishevsky, David M. Steinberg, Mustafa Kabha, Sali Usher, Irit Krause, Hannah Shalev, Daniel Landau, David Levartovsky
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 45-52 (2020)
Abstract Classical xanthinuria is a rare autosomal recessive metabolic disorder characterized by lack of xanthine dehydrogenase activity that often manifests as xanthine urolithiasis and risk of drug toxicity. Variants in the XDH or HMCS gene underli
Externí odkaz:
https://doaj.org/article/4b3823acbf6f42c58b33cb8b0c6f9357
Autor:
Hava Peretz, Ayala Lagziel, Florian Bittner, Mustafa Kabha, Meirav Shtauber-Naamati, Vicki Zhuravel, Sali Usher, Steffen Rump, Silke Wollers, Bettina Bork, Hanna Mandel, Tzipora Falik-Zaccai, Limor Kalfon, Juergen Graessler, Avraham Zeharia, Nasser Heib, Hannah Shalev, Daniel Landau, David Levartovsky
Publikováno v:
Biomedicines, Vol 9, Iss 7, p 788 (2021)
Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the XDH (type I) or MOCOS (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the
Externí odkaz:
https://doaj.org/article/39f61b1380a64273a9863f181879c35b
Autor:
Ayala Lagziel, Avraham Zeharia, Sali Usher, Mustafa Kabha, Nasser Heib, David Levartovsky, Limor Kalfon, Hava Peretz, Bettina Bork, Daniel Landau, Tzipora C Falik-Zaccai, Juergen Graessler, Florian Bittner, Vicki Zhuravel, Silke Wollers, Hannah Shalev, Hanna Mandel, Meirav Shtauber-Naamati, Steffen Rump
Publikováno v:
Biomedicines, Vol 9, Iss 788, p 788 (2021)
Biomedicines
Volume 9
Issue 7
Biomedicines
Volume 9
Issue 7
Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the XDH (type I) or MOCOS (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the
Autor:
Daniel Landau, David M. Steinberg, Hava Peretz, Michael Korostishevsky, Sali Usher, David Levartovsky, Mustafa Kabha, Irit Krause, Hannah Shalev
Publikováno v:
JIMD Reports
JIMD Reports, Vol 51, Iss 1, Pp 45-52 (2020)
JIMD Reports, Vol 51, Iss 1, Pp 45-52 (2020)
Classical xanthinuria is a rare autosomal recessive metabolic disorder characterized by lack of xanthine dehydrogenase activity that often manifests as xanthine urolithiasis and risk of drug toxicity. Variants in the XDH or HMCS gene underlie classic
Autor:
Shani Shenhar-Tsarfaty, Oren Tene, Einor Ben Assayag, Clemens Kirschbaum, Jeremy Molad, Tobias Stalder, Efrat Kliper, Natan M. Bornstein, Ludmila Shopin, Eitan Auriel, Hen Hallevi, Amos D. Korczyn, Sali Usher
Publikováno v:
Journal of Alzheimer's Disease. 65:1365-1375
BACKGROUND AND OBJECTIVE Previous studies suggest that excessive cortisol levels after stroke are associated with cognitive dysfunction. However, limited data exist regarding associations between post-stroke cortisol levels, brain abnormalities, gene
Autor:
Hermona Soreq, Ludmila Shopin, Itzhak Shapira, Sali Usher, Shlomo Berliner, Keren Ofek, N. M. Bornstein, Ya'acov Ritov, Nir Waiskopf, Shani Shenhar-Tsarfaty, E. Ben Assayag
Publikováno v:
European Journal of Neurology. 20:891-898
Background and purpose Polymorphic paraoxonase (PON1) variants can variably prevent low- and high-density lipoprotein oxidation, but their role in provoking atherosclerosis remained unclear. We addressed this issue by profiling PON1 polymorphisms and
Publikováno v:
Haemophilia : the official journal of the World Federation of Hemophilia. 2(1)
Carrier detection and prenatal diagnosis of haemophilia A, which was based in the last decade mainly on linkage polymorphism analysis, has been greatly facilitated by the recent discovery that two types of inversion disrupting the factor VIII gene ar
Autor:
Sali Usher, Tova Morad, Elena Keren-Tardai, Hava Peretz, Hanna Shalev, Ayala Lagziel, Daniel Landau, Tong Zhang, Gavin Blackburn, David Levartovsky, David G. Watson, Victoria Greenshpun, Meirav Shtauber-Naamati
Publikováno v:
Metabolomics. 8:951-959
Classical xanthinuria is a rare inherited metabolic disorder caused by either isolated xanthine dehydrogenase (XDH) deficiency (type I) or combined XDH and aldehyde oxidase (AO) deficiency (type II). XDH and AO are evolutionary related enzymes that s
Autor:
Hermona Soreq, Ludmila Shopin, Noomi Katz, Nir Giladi, Talma Hendler, Natan M. Bornstein, Itzhak Shapira, Sali Usher, Shani Shenhar-Tsarfaty, Jeffrey M. Hausdorff, Dafna Ben Baashat, Zahava Solomon, Orna Aizenstein, Amos D. Korczyn, Anat Mike, Einor Ben Assayag, Efrat Kliper, Eitan Auriel, A. Sholmo Berliner, Hen Hallevi, Uri Goldbourt
Publikováno v:
International Journal of Stroke. 7:341-347
Background Recent studies have demonstrated that even survivors of mild stroke experience residual damage, which persists and in fact increases in subsequent years. About 45% of stroke victims remain with different levels of disability. Identifying f
Autor:
Natan M. Bornstein, Shlomo Berliner, Einor Ben Assayag, Itzhak Shapira, Sali Usher, Irena Bova, Hava Peretz
Publikováno v:
Thrombosis and Haemostasis. 95:428-433
SummaryAn increased erythrocyte aggregation (EA) is associated with capillary slow flow, tissue hypoxemia and endothelial dysfunction. Fibrinogen is a major determinant in the formation of aggregated red blood cells. It has been suggested that the B