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Analysis of the Genotype–phenotype Correlation in Isovaleric Acidaemia: A Case Report of Long-Term Follow-Up of a Chinese Patient and Literature Review

FRONTIERS IN NEUROLOGY(2022)

Cited 2|Views9
Key words
isovaleric acidaemia,isovaleryl-CoA dehydrogenase (IVD),inherited metabolic disease,genotype-phenotype correlation,case report
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