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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Автори:	Xingmiao Liu, Xinquan Liu, Wenxuan Fan, Zhongbin Zhang, Peiyuan Zhang, Xiaojun Liu, Meifang Lei, Qing Li, Xiaoli Yu, Dong Li
Формат:	Artigo
Мова:	Inglês
Опубліковано:	Frontiers Media S.A. 2022-07-01
Серія:	Frontiers in Neurology
Предмети:	isovaleric acidaemia isovaleryl-CoA dehydrogenase (IVD) inherited metabolic disease genotype-phenotype correlation case report
Онлайн доступ:	https://www.frontiersin.org/articles/10.3389/fneur.2022.928334/full
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