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Article

Phenotype, genotype, and clinical outcome of Taiwanese with congenital nephrotic syndrome.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jun 2024

Tseng Min-Hua, Lin Shih-Hua, Fan Wen-Lang, Wu Ta-Wei, Lin Shuan-Pei, Ding Jhao-Jhuang, Tsai I-Jung, Tsai Jeng-Daw

Abstract excerpt

BACKGROUND/PURPOSE: Congenital nephrotic syndrome (CNS) is one of the important causes of end-stage kidney disease in children. Studies on the genotype, phenotype, and clinical outcome in infants with CNS caused by genetic mutations are scarce. METHODS: We analyzed the genetic background, clinical manifestations, treatment response, and prognosis of pediatric patients with CNS in Taiwan. RESULTS: Fifteen infants...

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PMID: 37845138
DOI: 10.1016/j.jfma.2023.10.003

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