Abstract
Several inherited disorders affecting the biosynthetic pathways of N-glycans have been discovered during the past years. This review summarizes the current knowledge in this rapidly expanding field and covers the molecular bases of these disorders as well as their phenotypical consequences.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Animals
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Carbohydrate Metabolism, Inborn Errors / diagnosis*
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Carbohydrate Metabolism, Inborn Errors / etiology
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Carbohydrate Metabolism, Inborn Errors / metabolism*
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Congenital Disorders of Glycosylation / metabolism
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Glycosylation
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Humans
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Mammals / metabolism
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Molecular Biology / methods*
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Proteins / metabolism*
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Saccharomyces cerevisiae / genetics
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Saccharomyces cerevisiae / metabolism
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Transferrin / analysis
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Transferrin / chemistry