title: CDG IIx with unusual phenotype.
abstract: Congenital disorders of glycosylation (CDG) are a group of genetic diseases characterized by defective protein glycosylation. N-glycosylation defects are divided into two groups (I and II). CDG group II (types IIa to IIe) refers to defects in the Golgi processing of protein-bound glycans. We report a patient with CDG IIx and an unusual phenotype.
authors.affiliation: Service de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France. david.cheillan@chu-lyon.fr
authors.forename: D
authors.initials: D
authors.lastname: Cheillan
authors.forename: S
authors.initials: S
authors.lastname: Cognat
authors.forename: C
authors.initials: C
authors.lastname: Dorche
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: C
authors.initials: C
authors.lastname: Vianey-Saban
authors.forename: N
authors.initials: N
authors.lastname: Guffon
mesh_terms: D000743:Anemia, Hemolytic / Q000209:etiology*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000523:psychology; D002908:Chronic Disease; D003402:Creatine Kinase / Q000097:blood*; D005145:Face / Q000002:abnormalities*; D006031:Glycosylation; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D011507:Proteinuria / Q000209:etiology*; D011597:Psychomotor Performance
chemical_list: D003402:Creatine Kinase