Population
A child presenting with mental retardation and hypervalinemia
Design
Case_report
Authors
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May enable leukocyte-based diagnosis of hypervalinemia; leaves open validation for prenatal testing.
The study identifies a specific defect in valine transamination in a child with hypervalinemia and suggests the potential for prenatal diagnosis via placental tissue.
Dancis et al. (1967) studied this question.
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