Carbohydrate-deficient glycoprotein syndromes: the Italian experience.
Di Rocco
M
M
Institute of Pediatrics, Giannina Gaslini Institute, Genoa, Genova, Italy.
Barone
R
R
Adami
A
A
Burlina
A
A
Carrozzi
M
M
Dionisi-Vici
C
C
Gatti
R
R
Iannetti
P
P
Parini
R
R
Raucci
U
U
Roccella
M
M
Spada
M
M
Fiumara
A
A
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
D014168:Transferrin; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase