Učitavanje...
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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| Izdano u: | J Clin Invest |
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| Glavni autori: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Society for Clinical Investigation
1998
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC508719/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9525984/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI2350 |
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