Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

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 ot...

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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1998
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC508719/
https://ncbi.nlm.nih.gov/pubmed/9525984
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