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Dent's disease complicated by an acute Budd-Chiari syndrome

We present the case of a young boy with Dent's disease, identified as having a mutation in the kidney-specific chloride-proton antitransporter CLCN5 during investigation for nephrotic-range proteinuria. He went on to develop growth hormone deficiency and was treated with recombinant growth horm...

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Detalhes bibliográficos
Main Authors: Platt, Caroline, Jadresic, Lyda, Dudley, Jan, Hartley, Jane L
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3902325/
https://ncbi.nlm.nih.gov/pubmed/24398869
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2013-200937
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