Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome
Abstract Mitochondrial transcription factor A (TFAM) deficiency may cause mtDNA depletion syndrome, which manifests as neonatal liver failure or primary ovarian insufficiency, hearing loss, seizures, and intellectual disability. Treatment focusing on symptomatic management, and the clinical prognosi...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2024-12-01
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| coleção: | Orphanet Journal of Rare Diseases |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s13023-024-03487-1 |
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