Anaesthetic management of an infant with MEGD(H)EL syndrome undergoing cochlear implant
Abstract Background The syndrome has these features: 3-methylglutaconic aciduria (MEG), deafness(D), encephalopathy (E), Leigh-like syndrome (L). This disorder is caused by biallelic mutations in serine active site-containing protein 1 (SERAC1) gene. When these patients experience hepatopathy (H) in...
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-11-01
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| Series: | BMC Anesthesiology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12871-024-02812-2 |
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