Analysis of the genotype–phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review

BACKGROUND: Isovaleric 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). METHODS: We report the case of a Chinese patient with IVA who was admitted to Tianjin Children...

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Detalles Bibliográficos
Autores principales: Liu, Xingmiao, Liu, Xinquan, Fan, Wenxuan, Zhang, Zhongbin, Zhang, Peiyuan, Liu, Xiaojun, Lei, Meifang, Li, Qing, Yu, Xiaoli, Li, Dong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9366085/
https://www.ncbi.nlm.nih.gov/pubmed/35968299
http://dx.doi.org/10.3389/fneur.2022.928334

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9366085/
https://www.ncbi.nlm.nih.gov/pubmed/35968299
http://dx.doi.org/10.3389/fneur.2022.928334

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