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Life-threatening metabolic alkalosis in Pendred syndrome

INTRODUCTION: Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid and goitre, results from biallelic defects in pendrin (encoded by SLC26A4), which transports chloride and iodide in the inner ear and thyroid respectively. Recently, pendrin has...

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Detalhes bibliográficos
Main Authors: Kandasamy, Narayanan, Fugazzola, Laura, Evans, Mark, Chatterjee, Krishna, Karet, Fiona
Formato: Artigo
Idioma:Inglês
Publicado em: BioScientifica 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3118492/
https://ncbi.nlm.nih.gov/pubmed/21551164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-11-0101
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