Title: Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
Authors: Hendriksz, C J ×
McClean, P
Henderson, M J
Keir, D G
Worthington, V C
Imtiaz, F
Schollen, E
Matthijs, Gert
Winchester, B G #
Issue Date: Sep-2001
Publisher: British Medical Association
Series Title: Archives of Disease in Childhood vol:85 issue:4 pages:339-40
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 (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. She responded to oral mannose treatment.
ISSN: 0003-9888
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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