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Magnetic resonance imaging of the brain in adolescents with phenylketonuria and in one case of 6-pyruvoyl tetrahydropteridine synthase deficiency

✍ Scribed by J. Pietz; U. K. Meyding-Lamadé; H. Schmidt


Book ID
105749676
Publisher
Springer
Year
1996
Tongue
English
Weight
525 KB
Volume
155
Category
Article
ISSN
0340-6997

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## Abstract This is a report on a case of carbohydrate‐deficient glycoprotein syndrome (CDGS) with neurological deficits. Magnetic resonance (MR) images showed remarkable atrophy of the cerebellum and brainstem, and hypointensity was seen in the pallidum on diffusion‐weighted images (DWI), suggesti