1.
Arch Dis Child
; 85(4): 339-40, 2001 Oct.
Artículo
en Inglés
| MEDLINE
| ID: mdl-11567948
RESUMEN
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.