Ethylmalonic encephalopathy caused by biallelic truncating variants in ETHE1: A case report
Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by biallelic pathogenic variants in ETHE1 , the gene encoding mitochondrial persulfide dioxygenase, an enzyme crucial for hydrogen sulfide (H 2 S) detoxification. Loss of this enzyme results in H 2 S accumulation...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
SAGE Publishing
2026-01-01
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| coleção: | SAGE Open Medical Case Reports |
| Acesso em linha: | https://doi.org/10.1177/2050313X251412221 |
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