A1/A2blood group variant due to fucosylation deficiency in carbohydrate deficient glycoprotein syndrome type I ?
✍ Scribed by K. Heyne; S. Weidinger
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 40 KB
- Volume
- 158
- 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
Carbohydrate-deficient glycoprotein syndrome type Ia (CDGS) is an autosomal recessive disorder, characterized by a central nervous system dysfunction and multiorgan failure associated with defective N-glycosylation and phosphomannomutase (PMM) deficiency related to mutations in the PMM2 gene. A tota