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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Detalhes bibliográficos
Main Authors: Hendriksz, C, McClean, P, Henderson, M, Keir, D, Worthington, V, Imtiaz, F, Schollen, E, Matthijs, G, Winchester, B
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2001
Assuntos:
Short Report
Acesso em linha: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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