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Article

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype

9 Feb 2019

Abstract excerpt

Patients with severe nonketotic hyperglycinemia (NKH) have absent psychomotor development and intractable epilepsy, whereas attenuated patients have variable psychomotor development and absent or treatable epilepsy; differences in brain magnetic resonance imaging (MRI) between phenotypes have not been reported. In a retrospective cross-sectional study, we reviewed 38 MRI studies from 24 molecularly proven NKH...

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PMID: 30737808
DOI: 10.1002/jimd.12072

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