Search Results - "Garrelfs, Sander"

Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1 by 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

“…Primary hyperoxaluria type 1 is caused by hepatic overproduction of oxalate, leading to kidney stones, nephrocalcinosis, kidney failure, and systemic oxalosis…”
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Safety, pharmacodynamics, and exposure-response modeling results from a first-in-human phase 1 study of nedosiran (PHYOX1) in primary hyperoxaluria by Hoppe, Bernd, Koch, Annelize, Cochat, Pierre, Garrelfs, Sander F, Baum, Michelle A, Groothoff, Jaap W, Lipkin, Graham, Coenen, Martin, Schalk, Gesa, Amrite, Aniruddha, McDougall, David, Barrios, Kelly, Langman, Craig B

“…Primary hyperoxaluria (PH) is a family of ultra-rare autosomal recessive inherited disorders of hepatic glyoxylate metabolism characterized by oxalate…”
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Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1. Reply by Garrelfs, Sander F, Gansner, John M, Lieske, John C

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A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3 by Martin-Higueras, Cristina, Garrelfs, Sander F, Groothoff, Jaap W, Jacob, Dorrit E, Moochhala, Shabbir H, Bacchetta, Justine, Acquaviva, Cecile, Zaniew, Marcin, Sikora, Przymyslaw, Beck, Bodo B, Hoppe, Bernd

“…Outcome data in primary hyperoxaluria type 3 (PH3), described as a less severe form of the PH's with a low risk of chronic kidney disease, are scarce. To…”
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Glyoxylate reductase: Definitive identification in human liver mitochondria, its importance for the compartment‐specific detoxification of glyoxylate by Garrelfs, Sander F., Chornyi, Serhii, Brinke, Heleen, Ruiter, Jos, Groothoff, Jaap, Wanders, Ronald J. A.

“…Glyoxylate is a key metabolite generated from various precursor substrates in different subcellular compartments including mitochondria, peroxisomes, and the…”
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Glycolate oxidase inhibition by lumasiran varies between patients with primary hyperoxaluria type 1 by Garrelfs, Sander F, Metry, Elisabeth L, van Harskamp, Dewi, Vaz, Frederic M, van den Akker, Chris H P, Schierbeek, Henk, Groothoff, Jaap W, Oosterveld, Michiel J S

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Plasma oxalate and glycolate concentrations in dialysis patients with and without primary hyperoxaluria type 1 by Metry, Elisabeth L, Garrelfs, Sander F, Peters-Sengers, Hessel, Vaz, Frederic M, Bijlsma, Joost A, Neradova, Aegida, Oosterveld, Michiel J S, Groothoff, Jaap W

“…Graphical Abstract Graphical Abstract…”
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The retinal phenotype in primary hyperoxaluria type 2 and 3 by Birtel, Johannes, Diederen, Roselie M., Herrmann, Philipp, Kaspar, Sophie, Beck, Bodo B., Garrelfs, Sander F., Hoppe, Bernd, Charbel Issa, Peter

“…Background The primary hyperoxalurias (PH1-3) are rare inherited disorders of the glyoxylate metabolism characterized by endogenous overproduction of oxalate…”
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Endogenous Oxalate Production in Primary Hyperoxaluria Type 1 Patients by Garrelfs, Sander F, van Harskamp, Dewi, Peters-Sengers, Hessel, van den Akker, Chris H P, Wanders, Ronald J A, Wijburg, Frits A, van Goudoever, Johannes B, Groothoff, Jaap W, Schierbeek, Henk, Oosterveld, Michiel J S

“…Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism, characterized by increased endogenous oxalate production. The metabolic…”
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Development and Validation of a New Gas Chromatography–Tandem Mass Spectrometry Method for the Measurement of Enrichment of Glyoxylate Metabolism Analytes in Hyperoxaluria Patients Using a Stable Isotope Procedure by van Harskamp, Dewi, Garrelfs, Sander F, Oosterveld, Michiel J. S, Groothoff, Jaap W, van Goudoever, Johannes B, Schierbeek, Henk

“…Primary hyperoxalurias (PH) are inborn errors of glyoxylate metabolism characterized by an increase in endogenous oxalate production. Oxalate overproduction…”
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The Ocular Phenotype in Primary Hyperoxaluria Type 1 by Birtel, Johannes, Herrmann, Philipp, Garrelfs, Sander F., Dulz, Simon, Atiskova, Yevgeniya, Diederen, Roselie M., Gliem, Martin, Brinkert, Florian, Holz, Frank G., Boon, Camiel J.F., Hoppe, Bernd, Charbel Issa, Peter

“…To investigate ophthalmic features in a large group of patients with primary hyperoxaluria type 1 (PH1) and to determine the relation between ocular…”
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Transplantation outcomes in patients with primary hyperoxaluria: a systematic review by Metry, Elisabeth L., van Dijk, Liza M. M., Peters-Sengers, Hessel, Oosterveld, Michiel J.S., Groothoff, Jaap W., Ploeg, Rutger J., Stel, Vianda S., Garrelfs, Sander F.

“…Background Primary hyperoxaluria type 1 (PH1) is characterized by hepatic overproduction of oxalate and often results in kidney failure. Liver-kidney…”
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Return-to-work in patients with acquired brain injury and psychiatric disorders as a comorbidity: A systematic review by Garrelfs, Sander F., Donker-Cools, Birgit H. P. M., Wind, Haije, Frings-Dresen, Monique H. W.

“…Abstract Objective: To explore the association between psychiatric disorders as a comorbidity and return-to-work (RTW) in individuals with acquired brain…”
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Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry by Metry, Elisabeth L., Garrelfs, Sander F., Peters-Sengers, Hessel, Hulton, Sally-Anne, Acquaviva, Cecile, Bacchetta, Justine, Beck, Bodo B., Collard, Laure, Deschênes, Georges, Franssen, Casper, Kemper, Markus J., Lipkin, Graham W., Mandrile, Giorgia, Mohebbi, Nilufar, Moochhala, Shabbir H., Oosterveld, Michiel J.S., Prikhodina, Larisa, Hoppe, Bernd, Cochat, Pierre, Groothoff, Jaap W.

“…In primary hyperoxaluria type 1 (PH1), oxalate overproduction frequently causes kidney stones, nephrocalcinosis, and kidney failure. As PH1 is caused by a…”
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Randomized Clinical Trial on the Long-Term Efficacy and Safety of Lumasiran in Patients With Primary Hyperoxaluria Type 1 by 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.

“…Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate, leading to kidney stones, nephrocalcinosis, kidney…”
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Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries by Talati, Jamsheer Jehangir, Hulton, Sally-Anne, Garrelfs, Sander F., Aziz, Wajahat, Rao, Shoaib, Memon, Amanullah, Nazir, Zafar, Biyabani, Raziuddin, Qazi, Saqib, Azam, Iqbal, Khan, Aysha Habib, Ahmed, Jamil, Jafri, Lena, Zeeshan, Mohammad

“…Primary hyperoxalurias (PH) are devastating, autosomal recessive diseases causing renal stones. Undifferentiated hyperoxaluria is seen in up to 43% of…”
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Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1 by Deesker, Lisa J., Karacoban, Hazal A., Metry, Elisabeth L., Garrelfs, Sander F., Bacchetta, Justine, Boyer, Olivia, Collard, Laure, Devresse, Arnaud, Hayes, Wesley, Hulton, Sally-Anne, Martin-Higueras, Cristina, Moochhala, Shabbir H., Neuhaus, Thomas J., Oh, Jun, Prikhodina, Larisa, Sikora, Przemyslaw, Oosterveld, Michiel J.S., Groothoff, Jaap W., Mandrile, Giorgia, Beck, Bodo B.

“…Primary hyperoxaluria type 1 (PH1) is known for its variable clinical course, even within families. However, the extent of this heterogeneity has not been…”
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Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium by Metry, Elisabeth L., Garrelfs, Sander F., Deesker, Lisa J., Acquaviva, Cecile, D’Ambrosio, Viola, Bacchetta, Justine, Beck, Bodo B., Cochat, Pierre, Collard, Laure, Hogan, Julien, Ferraro, Pietro Manuel, Franssen, Casper F.M., Harambat, Jérôme, Hulton, Sally-Anne, Lipkin, Graham W., Mandrile, Giorgia, Martin-Higueras, Cristina, Mohebbi, Nilufar, Moochhala, Shabbir H., Neuhaus, Thomas J., Prikhodina, Larisa, Salido, Eduardo, Topaloglu, Rezan, Oosterveld, Michiel J.S., Groothoff, Jaap W., Peters-Sengers, Hessel

“…Primary hyperoxaluria type 1 (PH1) has a highly heterogeneous disease course. Apart from the c.508G>A (p.Gly170Arg) AGXT variant, which imparts a relatively…”
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Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry by Deesker, Lisa J., Garrelfs, Sander F., Mandrile, Giorgia, Oosterveld, Michiel J.S., Cochat, Pierre, Deschênes, Georges, Harambat, Jérôme, Hulton, Sally-Anne, Gupta, Asheeta, Hoppe, Bernd, Beck, Bodo B., Collard, Laure, Topaloglu, Rezan, Prikhodina, Larisa, Salido, Eduardo, Neuhaus, Thomas, Groothoff, Jaap W., Bacchetta, Justine

“…Infantile oxalosis is the most severe form of primary hyperoxaluria type 1 (PH1), with onset of end-stage kidney disease (ESKD) during infancy. We aimed to…”
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5635 SYSTEMIC OXALOSIS: AN OVERVIEW OF THE FINDINGS AND PREVALENCE IN PRIMARY HYPEROXALURIA by Deesker, Lisa, Garrelfs, Sander, Groothoff, Jaap

“…Abstract Background and Aims Systemic oxalosis is a severe co-morbidity that may arise in patients with primary hyperoxaluria type 1 (PH1). It is caused by…”
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