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Article

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).

Biochimica et biophysica acta - 8 Oct 1999

Carchon H, Van Schaftingen E, Matthijs G, Jaeken J

Abstract excerpt

The carbohydrate-deficient glycoprotein or CDG syndromes (OMIM 212065) are a recently delineated group of genetic, multisystem diseases with variable dysmorphic features. The known CDG syndromes are characterized by a partial deficiency of the N-linked glycans of secretory glycoproteins, lysosomal enzymes, and probably also membranous glycoproteins. Due to the deficiency of terminal N-acetylneuraminic acid or...

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PMID: 10571009
DOI: 10.1016/s0925-4439(99)00073-3

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