A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population
Background: Ethylmalonic encephalopathy (EE) is a devastating early-onset inborn error of metabolism, and heterogenous disorders manifest as chronic diarrhea, petechial rash, and neurological manifestations. The mutation in the ETHE1 gene leads to hydrogen sulfide accumulation and eventually results...
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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: |
Discover STM Publishing Ltd
2021-06-01
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| シリーズ: | Journal of Biochemical and Clinical Genetics |
| 主題: | |
| オンライン･アクセス: | http://www.ejmanager.com/fulltextpdf.php?mno=16303 |
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