Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm

BACKGROUND: Proteinuria is a common clinical presentation, the diagnostic workup for which involves many non-invasive and invasive investigations. We report on two siblings that highlight the clinically relevant functional role of cubulin for albumin resorption in the proximal tubule and supports th...

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發表在:BMC Nephrol
Main Authors: Jayasinghe, Kushani, White, Susan M., Kerr, Peter G., MacGregor, Duncan, Stark, Zornitza, Wilkins, Ella, Simons, Cas, Mallett, Andrew, Quinlan, Catherine
格式: Artigo
語言:Inglês
出版: BioMed Central 2019
主題:
Case Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6704575/
https://ncbi.nlm.nih.gov/pubmed/31438875
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-019-1474-z
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