Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience.
原發性草酸尿症2型兒童的臨床特徵、基因檔案及短期結果:全國性經驗。
Pediatr Nephrol 2024-02-28
Primary hyperoxaluria in adults and children: a nationwide cohort highlights a persistent diagnostic delay.
成人和兒童的原發性高草酸血症:全國性群體突顯持續的診斷延遲。
Clin Kidney J 2024-05-13
Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.
自體隱性多囊腎病兄弟姐妹之間的表現型不一致:個案報告及文獻回顧。
Nephron 2024-10-28