Zobrazeno 1 - 10
of 56
pro vyhledávání: '"David J. Sas"'
Autor:
Yaacov Frishberg, Wesley Hayes, Hadas Shasha-Lavsky, David J. Sas, Mini Michael, Anne-Laure Sellier-Leclerc, Julien Hogan, Richard Willey, John M. Gansner, Daniella Magen
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundPrimary hyperoxaluria type 1 (PH1) is a genetic disorder resulting in overproduction of hepatic oxalate, potentially leading to recurrent kidney stones, nephrocalcinosis, chronic kidney disease, and kidney failure. Lumasiran, the first RNA
Externí odkaz:
https://doaj.org/article/22831d3639fc447396b0f620921112a5
Autor:
Sally A. Hulton, Jaap W. Groothoff, Yaacov Frishberg, Michael J. Koren, J. Scott Overcash, Anne-Laure Sellier-Leclerc, Hadas Shasha-Lavsky, Jeffrey M. Saland, Wesley Hayes, Daniella Magen, Shabbir H. Moochhala, Martin Coenen, Eva Simkova, Sander F. Garrelfs, David J. Sas, Kristin A. Meliambro, Taylor Ngo, Marianne T. Sweetser, Bahru A. Habtemariam, John M. Gansner, Tracy L. McGregor, John C. Lieske
Publikováno v:
Kidney International Reports, Vol 7, Iss 3, Pp 494-506 (2022)
Introduction: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate, leading to kidney stones, nephrocalcinosis, kidney failure, and systemic oxalosis. In the 6-month double-blind period (DBP) of ILL
Externí odkaz:
https://doaj.org/article/d1c32da830c840358e1a339f45ee8a45
Autor:
Filippo Pinto e Vairo, Carri Prochnow, Jennifer L. Kemppainen, Emily C. Lisi, Joan M. Steyermark, Teresa M. Kruisselbrink, Pavel N. Pichurin, Rhadika Dhamija, Megan M. Hager, Sam Albadri, Lynn D. Cornell, Konstantinos N. Lazaridis, Eric W. Klee, Sarah R. Senum, Mireille El Ters, Hatem Amer, Linnea M. Baudhuin, Ann M. Moyer, Mira T. Keddis, Ladan Zand, David J. Sas, Stephen B. Erickson, Fernando C. Fervenza, John C. Lieske, Peter C. Harris, Marie C. Hogan
Publikováno v:
Kidney Medicine, Vol 3, Iss 5, Pp 785-798 (2021)
Rationale & Objective: The etiology of kidney disease remains unknown in many individuals with chronic kidney disease (CKD). We created the Mayo Clinic Nephrology Genomics Clinic to improve our ability to integrate genomic and clinical data to identi
Externí odkaz:
https://doaj.org/article/04c369ed9d8440b18c17f55de117a3b3
Autor:
David J. Sas, John C. Lieske
Publikováno v:
Kidney International Reports, Vol 7, Iss 2, Pp 146-148 (2022)
Externí odkaz:
https://doaj.org/article/dfbbcfeb9caa42a8b024f86c802313bf
Autor:
Christian Hanna, Theodora A. Potretzke, Maroun Chedid, Laureano J. Rangel, Jennifer Arroyo, Dalia Zubidat, Peter J. Tebben, Andrea G. Cogal, Vicente E. Torres, Peter C. Harris, David J. Sas, John C. Lieske, Dawn S. Milliner, Fouad T. Chebib
Publikováno v:
Kidney Medicine, Vol 4, Iss 3, Pp 100419- (2022)
Rationale & Objective: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare monogenic disorder caused by SLC34A3 pathogenic variants. HHRH is characterized by kidney phosphate wasting, hypophosphatemia, hypercalciuria, an elevated
Externí odkaz:
https://doaj.org/article/fb2b003278e2450194649456f90f450b
Autor:
Simrit K. Warring, MD, MS, Victoria Novoa, MD, Sherif Shazly, MB, BCh, MS, Mari Charisse Trinidad, MD, David J. Sas, DO, Brenda Schiltz, MD, Mikel Prieto, MD, Andre Terzic, MD, PhD, Rodrigo Ruano, MD, PhD
Publikováno v:
Mayo Clinic Proceedings: Innovations, Quality & Outcomes, Vol 4, Iss 4, Pp 391-409 (2020)
The aim of this study was to investigate the effect of serial amnioinfusion therapy (SAT) for pulmonary hypoplasia in lower urinary tract obstruction (LUTO) or congenital renal anomalies (CRAs), introduce patient selection criteria, and present a cas
Externí odkaz:
https://doaj.org/article/bc0f97cfa60b44c0b1bb9fb442649ead
Autor:
David J. Sas, Felicity T. Enders, Tina M. Gunderson, Ramila A. Mehta, Julie B. Olson, Barbara M. Seide, Carly J. Banks, Bastian Dehmel, Patricia A. Pellikka, John C. Lieske, Dawn S. Milliner
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Background: Primary hyperoxaluria type 1 (PH1) is a rare monogenic disorder characterized by excessive hepatic production of oxalate leading to recurrent nephrolithiasis, nephrocalcinosis, and progressive kidney damage, often requiring renal replacem
Externí odkaz:
https://doaj.org/article/93d82d2a463f4ac3b4dab7299be93413
Autor:
Garrett N. Ungerer, Christine W. Liaw, Aaron M. Potretzke, David J. Sas, Patricio C. Gargollo, Candace F. Granberg, Kevin Koo
Publikováno v:
Journal of Pediatric Urology.
Publikováno v:
Kidney International Reports.
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