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  • Title: Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case report.
    Author: Culjat M, Benjak V, Dasovic-Buljevic A, Ozretic D, Fumic K, Acquaviva C, Baric I.
    Journal: J Comput Assist Tomogr; 2010; 34(5):762-5. PubMed ID: 20861782.
    Abstract:
    We present brain imaging and spectroscopy data in a neonate with a confirmed classic form of nonketotic hyperglycinemia (NKH), an autosomal-recessive metabolic disorder characterized by accumulation of glycine. To our knowledge, this is the first report of such complete analysis of the changes seen on conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy at such an early age. The findings in a neonate are consistent with reports in older children with NKH, confirming that pathological changes typical for NKH can be seen in the first postnatal week.
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