Article
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
The Journal of clinical investigation - 1 Apr 1998
Niehues R, Hasilik M, Alton G, Körner C, Schiebe-Sukumar M, Koch H G, Zimmer K P, Wu R, Harms E, Reiter K, von Figura K, Freeze H H, Harms H K, Marquardt T
Abstract excerpt
Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The disorder is caused by mutations in the PMI1 gene. The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent. Using standard diagnostic procedures, the disorder is indistinguishable from CDGS type...
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