Carbohydrate-deficient glycoprotein syndromes: the Italian experience

J Inherit Metab Dis. 2000 Jun;23(4):391-5. doi: 10.1023/a:1005608019977.

Authors

M Di Rocco¹, R Barone, A Adami, A Burlina, M Carrozzi, C Dionisi-Vici, R Gatti, P Iannetti, R Parini, U Raucci, M Roccella, M Spada, A Fiumara

Affiliation

¹ Institute of Pediatrics, Giannina Gaslini Institute, Genoa, Genova, Italy.

PMID: 10896302
DOI: 10.1023/a:1005608019977

No abstract available

MeSH terms

Adolescent
Adult
Cells, Cultured
Child
Child, Preschool
Congenital Disorders of Glycosylation / blood
Congenital Disorders of Glycosylation / enzymology
Congenital Disorders of Glycosylation / genetics
Congenital Disorders of Glycosylation / physiopathology*
Female
Fibroblasts / cytology
Fibroblasts / enzymology
Humans
Italy
Leukocytes / cytology
Leukocytes / enzymology
Male
Mutagenesis
Phosphotransferases (Phosphomutases) / deficiency*
Phosphotransferases (Phosphomutases) / genetics
Phosphotransferases (Phosphomutases) / metabolism
Transferrin / analysis

Substances

Transferrin
Phosphotransferases (Phosphomutases)
phosphomannomutase