Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

J Inherit Metab Dis. 1997 Jul;20(3):447-9. doi: 10.1023/a:1005331523477.

Authors

J Jaeken¹, J Artigas, R Barone, A Fiumara, T J de Koning, B T Poll-The, J F de Rijk-van Andel, G F Hoffmann, B Assmann, E Mayatepek, M Pineda, M A Vilaseca, J M Saudubray, B Schlüter, R Wevers, E Van Schaftingen

Affiliation

¹ Department of Pediatrics, University of Leuven, Belgium.

PMID: 9266378
DOI: 10.1023/a:1005331523477

No abstract available

Publication types

Clinical Trial
Research Support, Non-U.S. Gov't

MeSH terms

Congenital Disorders of Glycosylation / enzymology*
Female
Fibroblasts / enzymology
Humans
Isoelectric Focusing
Leukocytes / enzymology
Lymphocytes / enzymology
Male
Phosphotransferases (Phosphomutases) / deficiency*

Substances

Phosphotransferases (Phosphomutases)
phosphomannomutase