Search Results - "Deesker, Lisa"

Lumasiran, Isolated Kidney Transplantation, and Continued Vigilance by Bacchetta, Justine, Clavé, Stéphanie, Perrin, Peggy, Lemoine, Sandrine, Sellier-Leclerc, Anne-Laure, Deesker, Lisa J.

“…Although lumasiran targets glycolate oxidase and decreases hepatic oxalate synthesis, systemic oxalate release continues after single-organ kidney…”
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Weight loss and metabolic acidosis in a neonate: Questions by Deesker, Lisa J., Oosterveld, Michiel J. S., van Mill, Marije J., Roelofs, Joris J. T. H., van Heerde, Marc

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Weight loss and metabolic acidosis in a neonate: Answers by Deesker, Lisa J., Oosterveld, Michiel J. S., van Mill, Marije J., Roelofs, Joris J. T. H., van Heerde, Marc

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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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5731 INTRAFAMILIAL HETEROGENEITY AND IMPACT OF FAMILY SCREENING IN PRIMARY HYPEROXALURIA TYPE 1 by Deesker, Lisa, Karacoban, Hazal, Metry, Ella, Groothoff, Jaap

“…Abstract Background and Aims Primary hyperoxaluria is a rare genetic disease, caused by an autosomal recessive mutation of the AGXT gene. Clinical variability…”
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Genetic assessment in primary hyperoxaluria: why it matters by Mandrile, Giorgia, Beck, Bodo, Acquaviva, Cecile, Rumsby, Gill, Deesker, Lisa, Garrelfs, Sander, Gupta, Asheeta, Bacchetta, Justine, Groothoff, Jaap

“…Accurate diagnosis of primary hyperoxaluria (PH) has important therapeutic consequences. Since biochemical assessment can be unreliable, genetic testing is a…”
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Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope by Groothoff, Jaap W., Metry, Ella, Deesker, Lisa, Garrelfs, Sander, Acquaviva, Cecile, Almardini, Reham, Beck, Bodo B., Boyer, Olivia, Cerkauskiene, Rimante, Ferraro, Pietro Manuel, Groen, Luitzen A., Gupta, Asheeta, Knebelmann, Bertrand, Mandrile, Giorgia, Moochhala, Shabbir S., Prytula, Agnieszka, Putnik, Jovana, Rumsby, Gill, Soliman, Neveen A., Somani, Bhaskar, Bacchetta, Justine

“…Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent kidney stones,…”
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Nedosiran Safety and Efficacy in PH1: Interim Analysis of PHYOX3 by Groothoff, Jaap, Sellier-Leclerc, Anne-Laure, Deesker, Lisa, Bacchetta, Justine, Schalk, Gesa, Tönshoff, Burkhard, Lipkin, Graham, Lemoine, Sandrine, Bowman, Thomas, Zhou, Jing, Hoppe, Bernd

“…Primary hyperoxaluria (PH) is a rare genetic disorder of hepatic glyoxylate metabolism. Nedosiran is an RNA interference (RNAi) therapeutic that the US Food…”
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