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Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child
SUMMARY: Systemic pseudohypoaldosteronism type 1 (PHA1) is a rare genetic syndrome of tissue unresponsiveness to aldosterone caused by mutations affecting the epithelial Na channel (ENaC). The classical presentation is life-threatening neonatal/infantile salt-losing crises that mimic congenital adre...
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| 出版年: | Endocrinol Diabetes Metab Case Rep |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Bioscientifica Ltd
2021
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8240716/ https://ncbi.nlm.nih.gov/pubmed/34165441 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-21-0010 |
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