Evaluation of the clinical, biochemical, genotype and prognosis of mut -type methylmalonic acidemia in 365 Chinese cases.
Journal of medical genetics（2023）
摘要
There is a wide spectrum of variations in the gene with several common variations. Although the overall prognosis of -type MMA was poor, participation in MS/MS expanded NBS, vitamin B responsive and late onset are favourable factors for the prognosis.
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关键词
mutation, neonatal screening, paediatrics, phenotype, genotype
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