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

Pub. Date : 1999 Oct 8

PMID : 10571009






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Due to the deficiency of terminal N-acetylneuraminic acid or sialic acid, the glycan changes can be observed in serum transferrin or other glycoproteins using isoelectrofocusing with immunofixation as the most widely used diagnostic technique. N-Acetylneuraminic Acid transferrin Homo sapiens
2 Due to the deficiency of terminal N-acetylneuraminic acid or sialic acid, the glycan changes can be observed in serum transferrin or other glycoproteins using isoelectrofocusing with immunofixation as the most widely used diagnostic technique. N-Acetylneuraminic Acid transferrin Homo sapiens