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Description

218 , e20201137 (2021)

Wilcken B, Wiley V, Sim KG, Carpenter K : Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry

MRI findings The classic finding is T2/FLAIR hyperintensity with diffusion restriction involving the insular gyri and cingulate gyri (with relative sparing of the occipital lobes and perirolandic region