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Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium

INTRODUCTION: 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 favorable outcome, little is known about determinants of kidney failure. Identifying these is crucial for disease management,...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10577369/
https://www.ncbi.nlm.nih.gov/pubmed/37849991
http://dx.doi.org/10.1016/j.ekir.2023.07.025