title: Carbohydrate-deficient glycoprotein syndromes: the Italian experience.
authors.affiliation: Institute of Pediatrics, Giannina Gaslini Institute, Genoa, Genova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.forename: R
authors.initials: R
authors.lastname: Barone
authors.forename: A
authors.initials: A
authors.lastname: Adami
authors.forename: A
authors.initials: A
authors.lastname: Burlina
authors.forename: M
authors.initials: M
authors.lastname: Carrozzi
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: R
authors.initials: R
authors.lastname: Gatti
authors.forename: P
authors.initials: P
authors.lastname: Iannetti
authors.forename: R
authors.initials: R
authors.lastname: Parini
authors.forename: U
authors.initials: U
authors.lastname: Raucci
authors.forename: M
authors.initials: M
authors.lastname: Roccella
authors.forename: M
authors.initials: M
authors.lastname: Spada
authors.forename: A
authors.initials: A
authors.lastname: Fiumara
mesh_terms: D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000097:blood / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000201:enzymology; D006801:Humans; D007558:Italy; D007962:Leukocytes / Q000166:cytology / Q000201:enzymology; D008297:Male; D016296:Mutagenesis; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D014168:Transferrin / Q000032:analysis
chemical_list: D014168:Transferrin; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase