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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Detalles Bibliográficos
Autores principales: Kandasamy, Narayanan, Fugazzola, Laura, Evans, Mark, Chatterjee, Krishna, Karet, Fiona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioScientifica 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118492/
https://www.ncbi.nlm.nih.gov/pubmed/21551164
http://dx.doi.org/10.1530/EJE-11-0101

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118492/
https://www.ncbi.nlm.nih.gov/pubmed/21551164
http://dx.doi.org/10.1530/EJE-11-0101

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