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Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)

✍ Scribed by Rita Barone; Lorenzo Pavone; Agata Fiumara; Rio Bianchini; Jaak Jaeken


Book ID
117545900
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
182 KB
Volume
21
Category
Article
ISSN
0387-7604

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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