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

Romain PszczolinskiCécile Acquaviva BourdainInsaf BerrahalNathalie Gouge-BiebuyckStephane BurteyKarine ClabaultClaire DossierMatthieu GuilletFloriane HemeryEmmanuel LetavernierCaroline Rousset-RouvièreJustine BacchettaBruno Moulin
Published in: Clinical kidney journal (2024)
This extensive and recent cohort of PH underscores the considerable delay in diagnosing PH, particularly in adults, even in a country with a dedicated organization for enhancing the overall management of rare diseases. These findings reinforce the imperative for increased awareness among relevant specialties regarding the evaluation of urolithiasis.
Keyphrases
  • young adults
  • cross sectional