title: Carbohydrate-deficient glycoprotein syndrome due to phosphomannomutase deficiency: the first reported cases from Latin America.
authors.forename: M I
authors.initials: MI
authors.lastname: de Michelena
authors.forename: L M
authors.initials: LM
authors.lastname: Franchi
authors.forename: P G
authors.initials: PG
authors.lastname: Summers
authors.forename: C
authors.initials: C
authors.lastname: De La Fuente
authors.forename: P J
authors.initials: PJ
authors.lastname: Campos
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D005260:Female; D006801:Humans; D007843:Latin America; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency*
chemical_list: D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase