Article
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Molecular genetics and metabolism - 1 Mar 2017
Al Teneiji Amal, Bruun Theodora U J, Sidky Sarah, Cordeiro Dawn, Cohn Ronald D, Mendoza-Londono Roberto, Moharir Mahendranath, Raiman Julian, Siriwardena Komudi, Kyriakopoulou Lianna, Mercimek-Mahmutoglu Saadet
Abstract excerpt
BACKGROUND: Congenital disorders of glycosylation (CDG) are inborn defects of glycan metabolism. They are multisystem disorders. Analysis of transferrin isoforms is applied as a screening test for CDG type I (CDG-I) and type II (CDG-II). We performed a retrospective cohort study to determine spectrum of phenotype and genotype and prevalence of the different subtypes of CDG-I and CDG-II. MATERIAL AND METHODS: All...
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