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NormalN-oligosaccharyltransferase activity in fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome

✍ Scribed by R. Knauer; L. Lehle; F. Hanefeld; K. Figura


Publisher
Springer
Year
1994
Tongue
English
Weight
254 KB
Volume
17
Category
Article
ISSN
0141-8955

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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