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Matches in SemOpenAlex for { <https://semopenalex.org/work/W2005455329> ?p ?o ?g. }

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• W2005455329 abstract "Three siblings suffered from an unusual disorder of cyclic vomiting and congenital hepatic fibrosis. Serum transferrin isoelectric focusing showed increased asialo- and disialotransferrin isoforms as seen in the carbohydrate-deficient glycoprotein (CDG) syndrome type I. Phosphomannomutase, which is deficient in most patients with type I CDG syndrome, was found to be normal in all three patients. Structural analysis of serum transferrin revealed nonglycosylated, hypoglycosylated, and normoglycosylated transferrin molecules. These findings suggested a defect in the early glycosylation pathway. Phosphomannose isomerase was found to be deficient and the defect was present in leucocytes, fibroblasts, and liver tissue. Phosphomannose isomerase deficiency appears to be a novel glycosylation disorder, which is biochemically indistinguishable from CDG syndrome type I. However, the clinical presentation is entirely different." @default.
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• W2005455329 date "1998-04-01" @default.
• W2005455329 modified "2023-10-17" @default.
• W2005455329 title "A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency" @default.
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• W2005455329 doi "https://doi.org/10.1006/bbrc.1998.8385" @default.
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