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Dent’s disease: An unusual cause of kidney failure

Dent’s disease is an X-linked recessive disease characterized by proximal tubulopathy with low-molecular weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and kidney failure. It is mainly caused by mutations in the CLCN5 or OCRL1 genes, and only ~ 250 families have been identifi...

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Detalles Bibliográficos
Autores principales: Leite de Sousa, Luís, Pimenta, Gonçalo, Veríssimo, Rita, Carvalho, Tiago J., Laranjinha, Ivo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dustri-Verlag Dr. Karl Feistle 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9850247/
https://www.ncbi.nlm.nih.gov/pubmed/36688186
http://dx.doi.org/10.5414/CNCS110975