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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Hendriksz, C, McClean, P, Henderson, M, Keir, D, Worthington, V, Imtiaz, F, Schollen, E, Matthijs, G, Winchester, B
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2001
Matèries:
Short Report
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars