Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome
β Scribed by D. Skladal; W. Sperl; H. Henry; C. Bachmann
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 168 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0141-8955
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
The carbohydrate-deficient glycoprotein syndromes are a group of recently described autosomal recessive, metabolic defects affecting multiple systems. The disorder is caused by inefficient posttranslational glycosylation of glycoproteins. Patients with the syndrome present early in life with psychom
The clinical symptoms and morphologic features of canine hepatocerebellar degeneration syndrome (CHD) bear striking resemblance to those of human carbohydrate-deficient glycoprotein syndrome (CDGS). The characteristic biochemical and molecular features of human CDGS lie in the truncated carbohydrate
## Abstract This is a report on a case of carbohydrateβdeficient 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 diffusionβweighted images (DWI), suggesti