Kongenitale Glykosilierungsstörung 1N

Haeuptle MA et al. (2008) Human RFT1 deficiency leads to a disorder of N-linked glycosylation.

Vleugels W et al. (2009) RFT1 deficiency in three novel CDG patients.

Jaeken J et al. (2009) RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.

Ondruskova N et al. (2012) RFT1-CDG in adult siblings with novel mutations.

Imtiaz F et al. (2000) Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

Stibler H et al. (1998) Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I.

None (2006) Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.

OMIM.ORG article

Orphanet article