Novel therapeutic approaches for the primary hyperoxalurias von Belostotsky, Ruth, Frishberg, Yaacov

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Catabolism of Hydroxyproline in Vertebrates: Physiology, Evolution, Genetic Diseases and New siRNA Approach for Treatment von Belostotsky, Ruth, Frishberg, Yaacov

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Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1 von Garrelfs, Sander F, Frishberg, Yaacov, Hulton, Sally A, Koren, Michael J, O’Riordan, William D, Cochat, Pierre, Deschênes, Georges, Shasha-Lavsky, Hadas, Saland, Jeffrey M, van’t Hoff, William G, Fuster, Daniel G, Magen, Daniella, Moochhala, Shabbir H, Schalk, Gesa, Simkova, Eva, Groothoff, Jaap W, Sas, David J, Meliambro, Kristin A, Lu, Jiandong, Sweetser, Marianne T, Garg, Pushkal P, Vaishnaw, Akshay K, Gansner, John M, McGregor, Tracy L, Lieske, John C

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First-week urine beta-2 microglobulin levels in term healthy neonates von Tzvi-Behr, Shimrit, Ivgi, Heftziba, Frishberg, Yaacov, Ben Shalom, Efrat

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Long-term complications of systemic oxalosis in children—a retrospective single-center cohort study von Ben-Shalom, Efrat, Cytter-Kuint, Ruth, Rinat, Choni, Becker-Cohen, Rachel, Tzvi-Behr, Shimrit, Goichberg, Jenny, Peles, Vardit, Frishberg, Yaacov

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Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III von Belostotsky, Ruth, Seboun, Eric, Idelson, Gregory H., Milliner, Dawn S., Becker-Cohen, Rachel, Rinat, Choni, Monico, Carla G., Feinstein, Sofia, Ben-Shalom, Efrat, Magen, Daniella, Weissman, Irith, Charon, Celine, Frishberg, Yaacov

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Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome von Belostotsky, Ruth, Ben-Shalom, Efrat, Rinat, Choni, Becker-Cohen, Rachel, Feinstein, Sofia, Zeligson, Sharon, Segel, Reeval, Elpeleg, Orly, Nassar, Suheir, Frishberg, Yaacov

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Primary hyperoxaluria type III—a model for studying perturbations in glyoxylate metabolism von Belostotsky, Ruth, Pitt, James Jonathon, Frishberg, Yaacov

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Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis von Monico, Carla G, Rossetti, Sandro, Belostotsky, Ruth, Cogal, Andrea G, Herges, Regina M, Seide, Barbara M, Olson, Julie B, Bergstrahl, Eric J, Williams, Hugh J, Haley, William E, Frishberg, Yaacov, Milliner, Dawn S

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Efficacy and safety of lumasiran for infants and young children with primary hyperoxaluria type 1: 30-month analysis of the phase 3 ILLUMINATE-B trial von Frishberg, Yaacov, Hayes, Wesley, Shasha-Lavsky, Hadas, Sas, David J, Michael, Mini, Sellier-Leclerc, Anne-Laure, Hogan, Julien, Willey, Richard, Gansner, John M, Magen, Daniella

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Complications of central venous stenosis due to permanent central venous catheters in children on hemodialysis von Rinat, Choni, Ben-Shalom, Efrat, Becker-Cohen, Rachel, Feinstein, Sofia, Frishberg, Yaacov

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Mutations of NPHP2 and NPHP3 in infantile nephronophthisis von Tory, Kálmán, Rousset-Rouvière, Caroline, Gubler, Marie-Claire, Morinière, Vincent, Pawtowski, Audrey, Becker, Céline, Guyot, Claude, Gié, Sophie, Frishberg, Yaacov, Nivet, Hubert, Deschênes, Georges, Cochat, Pierre, Gagnadoux, Marie-France, Saunier, Sophie, Antignac, Corinne, Salomon, Rémi

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Human mitochondrial tRNA quality control in health and disease: A channelling mechanism? von Belostotsky, Ruth, Frishberg, Yaacov, Entelis, Nina

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Randomized Clinical Trial on the Long-Term Efficacy and Safety of Lumasiran in Patients With Primary Hyperoxaluria Type 1 von Hulton, Sally A., Groothoff, Jaap W., Frishberg, Yaacov, Koren, Michael J., Overcash, J. Scott, Sellier-Leclerc, Anne-Laure, Shasha-Lavsky, Hadas, Saland, Jeffrey M., Hayes, Wesley, Magen, Daniella, Moochhala, Shabbir H., Coenen, Martin, Simkova, Eva, Garrelfs, Sander F., Sas, David J., Meliambro, Kristin A., Ngo, Taylor, Sweetser, Marianne T., Habtemariam, Bahru A., Gansner, John M., McGregor, Tracy L., Lieske, John C.

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Prematurity and Low Birth Weight Associate with Adolescent Hypertension in a Large Nationwide Cohort: TH-PO502 von Tzvi-Behr, Shimrit, Benshalom, Efrat, Frishberg, Yaacov

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Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria von Hopp, Katharina, Cogal, Andrea G, Bergstralh, Eric J, Seide, Barbara M, Olson, Julie B, Meek, Alicia M, Lieske, John C, Milliner, Dawn S, Harris, Peter C

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Primary hyperoxalurias: diagnosis and treatment von Ben-Shalom, Efrat, Frishberg, Yaacov

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Risk Factors for Cardiovascular Disease in Children and Young Adults after Renal Transplantation von Becker-Cohen, Rachel, Nir, Amiram, Rinat, Choni, Feinstein, Sofia, Algur, Nurit, Farber, Benjamin, Frishberg, Yaacov

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Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria von Frishberg, Yaacov, Zeharia, Avraham, Lyakhovetsky, Roman, Bargal, Ruth, Belostotsky, Ruth

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WCN24-1136 URINE SINGLE-CELL RNA-SEQUENCING IN MINIMAL CHANGE DISEASE von Frishberg, Yaacov, Shkedy, Fanny, Belostotsky, Ruth

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