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

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1455, Issue 2-3, 1999, Pages 155-165

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

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Carbohydrate deficient glycoprotein syndrome; Glycoprotein; N Glycosylation; Phosphomannomutase deficiency; Serum transferrin

Indexed keywords

GLUCOSYLTRANSFERASE; GLYCAN; GLYCOPROTEIN; LYSOSOME ENZYME; MANNOSE PHOSPHATE ISOMERASE; MEMBRANE PROTEIN; N ACETYLNEURAMINIC ACID; PHOSPHOMANNOMUTASE; SIALIC ACID; TRANSFERRIN;

CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; ENDOPLASMIC RETICULUM; ENZYME DEFICIENCY; GENE; GENETIC DISORDER; HUMAN; ISOELECTRIC FOCUSING; MOLECULAR BIOLOGY; PRIORITY JOURNAL; REVIEW; TRANSFERRIN BLOOD LEVEL;

EID: 0032881650     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(99)00073-3     Document Type: Review

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