Analysis of the genotype–phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review
BackgroundIsovaleric acidaemia (IVA), characterized by an acute metabolic crisis and psychomotor delay, is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD).MethodsWe report the case of a Chinese patient with IVA who was admitted to Tianjin Children's Ho...
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| Principais autores: | , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Frontiers Media S.A.
2022-07-01
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| 叢編: | Frontiers in Neurology |
| 主題: | |
| 在線閱讀: | https://www.frontiersin.org/articles/10.3389/fneur.2022.928334/full |
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