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- W2140163092 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 (<i>PM1</i>), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. She responded to oral mannose treatment." @default.
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- W2140163092 title "Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose" @default.
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- W2140163092 doi "https://doi.org/10.1136/adc.85.4.339" @default.
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