Magnetic resonance findings in a neonate with nonketotic hyperglycinemia : case report (CROSBI ID 178049)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Čuljat, Marko. ; Benjak, Vesna ; Dasović-Buljević, Andrea ; Ozretić, David ; Fumić, Ksenija ; Acquaviva, C. ; Barić, Ivo
engleski
Magnetic resonance findings in a neonate with nonketotic hyperglycinemia : case report
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.
nonketotic hyperglycinemia; magnetic resonance imaging
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Podaci o izdanju
34 (5)
2010.
762-765
objavljeno
0363-8715
10.1097/RCT.0b013e3181e846d7
Povezanost rada
Temeljne medicinske znanosti