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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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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioScientifica
2011
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| 主題: | |
| オンライン･アクセス: | 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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