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- Title
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose.
- Authors
Hendriksz, C J; McClean, P; Henderson, M J; Keir, D G; Worthington, V C; Imtiaz, F; Schollen, E; Matthijs, G; Winchester, B G
- Abstract
An Asian girl presented with failure to thrive, congenital hepatic fibrosis, protein losing enteropathy, and hypoglycaemia. Phosphomannose isomerase activity in skin fibroblasts was reduced. She is homozygous for a mutation, D131N, in the phosphomannose isomerase gene (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. She responded to oral mannose treatment.
- Publication
Archives of disease in childhood, 2001, Vol 85, Issue 4, p339
- ISSN
1468-2044
- Publication type
Journal Article
- DOI
10.1136/adc.85.4.339