Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Irith Weissman"'
Autor:
Hadas Shasha-Lavsky, Aviv Avni, Ziv Paz, Limor Kalfon, Amiel A. Dror, Orly Yakir, Tzipora Falik Zaccai, Irith Weissman
Publikováno v:
Pediatric Nephrology. 38:1811-1820
Autor:
David J. Sas, Daniella Magen, Wesley Hayes, Hadas Shasha-Lavsky, Mini Michael, Indra Schulte, Anne-Laure Sellier-Leclerc, Jiandong Lu, Ali Seddighzadeh, Bahru Habtemariam, Tracy L. McGregor, Kenji P. Fujita, Yaacov Frishberg, Justine Bacchetta, Véronique Baudouin, Rachel Becker-Cohen, Shimrit Tzvi Behr, Efrat Ben-Shalom, Maria Berdaguer, Detlef Bockenhauer, Pierre Cochat, Martin Coenen, Carl H. Cramer, Georges Deschênes, Claire Dossier, Emilie Doye, Liat Feraru Feldman, Maximilian Hohenadel, Florentia Kaguelidou, Irina Libinson Zebegret, John C. Lieske, Anne Maisin, Dawn S. Milliner, Moran Plonsky Toder, Shirley Pollack, Aurélie Portefaix, Bruno Ranchin, Choni Rinat, Adnan Safdar, Gesa Schalk, Poyyapakkam R. Srivaths, Cheryl L. Tran, William Van't Hoff, Jenny Weinbrand-Goichberg, Irith Weissman
Publikováno v:
Genetics in Medicine. 24:654-662
Primary hyperoxaluria type 1 (PH1) is a rare, progressive, genetic disease with limited treatment options. We report the efficacy and safety of lumasiran, an RNA interference therapeutic, in infants and young children with PH1.This single-arm, open-l
Autor:
Maayan Kagan, Yishay Ben Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Daniella Magen, Ruth Schreiber, Oded Volovelsky, Hadas Shasha-Lavsky, Miriam Davidovits, Yael Borovitz, Nofar Mor, Yulia Khavkin, Shimrit Tzvi Behr, Shirley Pollack, Michael Geylis, Aviad Schnapp, Irith Weissman, Ortal Barel, Asaf Vivante
Publikováno v:
Nephrology Dialysis Transplantation. 37
BACKGROUND Chronic kidney disease in children is estimated to be secondary to a monogenic etiology in ∼20% of patients and can arise from mutations in a multitude of different single-gene causes. Still, data are lacking on the true prevalence of ge
Autor:
Hadas, Shasha-Lavsky, Aviv, Avni, Ziv, Paz, Limor, Kalfon, Amiel A, Dror, Orly, Yakir, Tzipora Falik, Zaccai, Irith, Weissman
Publikováno v:
Pediatric nephrology (Berlin, Germany).
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease caused by the liver defect of oxalate metabolism, which leads to kidney failure and systemic manifestations. Until recently, liver transplantation was the only definitive treatment.
Autor:
Tzipora C. Falik-Zaccai, Nurit Edri, Nehama Cohen-Kfir, Irith Weissman, Lena Sagi-Dain, Hadas Shasha Lavski, Limor Kalfon, Amir Peleg
Publikováno v:
Birth Defects Research. 112:316-320
BACKGROUND Isolated populations with high rates of consanguinity and genetic disorders can be found in most parts of the world. The aim of our paper was to highlight the unique challenges faced in genetic counseling for such patients and to discuss t
Publikováno v:
Harefuah. 160(12)
Hyperuricemia can cause renal damage and acute kidney injury or be secondary to renal failure and reduced excretion. Rasburicase, a recombinant urate oxidase, is a common treatment for hyperuricemia from different etiologies. There are scarce reports
Autor:
Naomi Issler, Sara Afonso, Irith Weissman, Katrin Jordan, Alberto Cebrian-Serrano, Katrin Meindl, Eileen Dahlke, Konstantin Tziridis, Guanhua Yan, José M. Robles-López, Lydia Tabernero, Vaksha Patel, Anne Kesselheim, Enriko D. Klootwijk, Horia C. Stanescu, Simona Dumitriu, Daniela Iancu, Mehmet Tekman, Monika Mozere, Graciana Jaureguiberry, Priya Outtandy, Claire Russell, Anna-Lena Forst, Christina Sterner, Elena-Sofia Heinl, Helga Othmen, Ines Tegtmeier, Markus Reichold, Ina Maria Schiessl, Katharina Limm, Peter Oefner, Ralph Witzgall, Lifei Fu, Franziska Theilig, Achim Schilling, Efrat Shuster Biton, Limor Kalfon, Ayalla Fedida, Elite Arnon-Sheleg, Ofer Ben Izhak, Daniella Magen, Yair Anikster, Holger Schulze, Christine Ziegler, Martin Lowe, Benjamin Davies, Detlef Böckenhauer, Robert Kleta, Tzipora C. Falik Zaccai, Richard Warth
Publikováno v:
J Am Soc Nephrol
Issler, N, Afonso, S, Weissman, I, Jordan, K, Cebrian-Serrano, A, Meindl, K, Dahlke, E, Tziridis, K, Yan, G, Robles-López, J M, Tabernero, L, Patel, V, Kesselheim, A, Klootwijk, E D, Stanescu, H C, Dumitriu, S, Iancu, D, Tekman, M, Mozere, M, Jaureguiberry, G, Outtandy, P, Russell, C, Forst, A-L, Sterner, C, Heinl, E-S, Othmen, H, Tegtmeier, I, Reichold, M, Schiessl, I M, Limm, K, Oefner, P, Witzgall, R, Fu, L, Theilig, F, Schilling, A, Shuster Biton, E, Kalfon, L, Fedida, A, Arnon-Sheleg, E, Ben Izhak, O, Magen, D, Anikster, Y, Schulze, H, Ziegler, C, Lowe, M, Davies, B, Böckenhauer, D, Kleta, R, Falik Zaccai, T C & Warth, R 2022, ' A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness ', Journal of the American Society of Nephrology : JASN, vol. 33, no. 4, pp. 732-745 . https://doi.org/10.1681/ASN.2021101312
Issler, N, Afonso, S, Weissman, I, Jordan, K, Cebrian-Serrano, A, Meindl, K, Dahlke, E, Tziridis, K, Yan, G, Robles-López, J M, Tabernero, L, Patel, V, Kesselheim, A, Klootwijk, E D, Stanescu, H C, Dumitriu, S, Iancu, D, Tekman, M, Mozere, M, Jaureguiberry, G, Outtandy, P, Russell, C, Forst, A-L, Sterner, C, Heinl, E-S, Othmen, H, Tegtmeier, I, Reichold, M, Schiessl, I M, Limm, K, Oefner, P, Witzgall, R, Fu, L, Theilig, F, Schilling, A, Shuster Biton, E, Kalfon, L, Fedida, A, Arnon-Sheleg, E, Ben Izhak, O, Magen, D, Anikster, Y, Schulze, H, Ziegler, C, Lowe, M, Davies, B, Böckenhauer, D, Kleta, R, Falik Zaccai, T C & Warth, R 2022, ' A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness ', Journal of the American Society of Nephrology : JASN, vol. 33, no. 4, pp. 732-745 . https://doi.org/10.1681/ASN.2021101312
BACKGROUND: The endocytic reabsorption of proteins in the proximal tubule requires a complex machinery and defects can lead to tubular proteinuria. The precise mechanisms of endocytosis and processing of receptors and cargo are incompletely understoo
Autor:
Irith Weissman, Eitan Mor, Ruty Rachamimov, Irit Krause, Amit Dagan, Maya Mor, Roxana Cleper, Yaakov Frishberg, Miriam Davidovits, Nathan Bar Nathan
Publikováno v:
Clinical Transplantation. 30:1324-1331
From 1982 to 2011, 53 kidney transplantations (KT) for pediatric focal segmental glomerulosclerosis (FSGS) were recorded in the National Israeli Kidney Transplant Registry (NIKTR): 22—primary (1◦) FSGS, 25—proved/suspected genetic-secondary (2
Publikováno v:
The Journal of Pediatrics. 163:1417-1421
To study the clinical characteristics and associated risk factors of urinary tract infections (UTIs) caused by community-acquired extended-spectrum β-lactamase (CA-ESBL)-producing Enterobacteriaceae.A case-control study at a large community hospital
Autor:
Irith Weissman, Ruth Rahamimov, Roxana Cleper, Miriam Davidovits, Efrat Ben Shalom, Eytan Mor, Irit Krause, Yaakov Frishberg, Osnat Konen, Daniel Landau, Nathan Bar-Nathan
Publikováno v:
Pediatric Transplantation. 16:619-626
PTLD is the most common malignancy in pediatric kidney-transplant recipients. We examined the prevalence, clinical features, and outcome of PTLD in Israel. Twelve (4.4%) of 272 pediatric (