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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...
Autores principales: | Leite de Sousa, Luís, Pimenta, Gonçalo, Veríssimo, Rita, Carvalho, Tiago J., Laranjinha, Ivo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dustri-Verlag Dr. Karl Feistle
2023
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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 |
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