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Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
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 diag...
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| Asıl Yazarlar: | , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMJ Group
2001
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1718944/ https://ncbi.nlm.nih.gov/pubmed/11567948 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.85.4.339 |
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