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Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome |
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| Authors: | Krasnewich Donna M; Holt Gordon D; Brantly Mark; Skovby Flemming; Redwine Jeff; Gahl William A |
| Institution: | 1Section on Human Biochemical Genetics, Human Genetics Branch, NICHD, National Institutes of Health Building 10, Room 9S-242, 10 Center Drive, MSC 1830, MD 20892-1830, USA 2Oxford Glycosystems, Inc. Bedford, MA, USA 3Unit on Disorders of Secreted Proteins, Human Genetics Branch, NICHD, National Institutes of Health Bethesda, MD, USA 4Division of Clinical Genetics, Department of Pediatrics Rigshospitalet, Copenhagen, Denmark |
| Abstract: | Carbohydrate-deficient glycoprotein syndrome (CDGS) is a raremetabolic disorder presenting in infancy with severe neurologicinvolvement and variable multisystemic abnormalities. Diagnosisrelies upon the detection of abnormal serum glycoprotein isoformson isoelectric focusing (IEF) gels. Carbohydrate structuralanalyses were performed on the N-linked oligosaccharides ofserum |
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