Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay

Background Primary hyperoxalurias (PH) are extremely rare genetic disorders characterized by clinical heterogeneity. Delay in diagnosing these conditions can have detrimental effects on patient outcomes. The primary objective of this study is to assess the current diagnostic delay for PH. Methods Th...

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Veröffentlicht in:	Clinical kidney journal 2024-05, Vol.17 (5), p.sfae099-sfae099
Hauptverfasser:	Pszczolinski, Romain, Acquaviva, Cécile, Berrahal, Insaf, Biebuyck, Nathalie, Burtey, Stéphane, Clabault, Karine, Dossier, Claire, Guillet, Matthieu, Hemery, Floriane, Letavernier, Emmanuel, Rousset-Rouvière, Caroline, Bacchetta, Justine, Moulin, Bruno
Format:	Artikel
Sprache:	eng
Schlagworte:	Biotechnology industry Human health and pathology Life Sciences Liver Medical research Medicine, Experimental Transplantation of organs, tissues, etc Urology and Nephrology
Online-Zugang:	Volltext
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