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Classic Bartter syndrome: a rare cause of failure to thrive in a child

Bartter syndrome is a group of rare autosomal-recessive disorders caused by a defect in distal tubule transport of sodium and chloride. Blood gases and plasma electrolytes raise suspicion of this diagnosis and the definitive diagnosis is made by genetic study. Early treatment improves prognosis. The...

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Autors principals: Vieira, Helena, Mendes, Leonor, Mendes, Patricia, da Silva, José Esteves
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3448348/
https://ncbi.nlm.nih.gov/pubmed/22744244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.02.2012.5888
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