Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.
Several inherited disorders affecting the biosynthetic pathways of N-glycans have been discovered during the past years. This review summarizes the current knowledge in this rapidly expanding field and covers the molecular bases of these disorders as well as their phenotypical consequences.
Marquardt
T
T
Klinik und Poliklinik für Kinderheilkunde, Universität Münster, Germany.
Freeze
H
H
D000818:Animals; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000209:etiology / Q000378:metabolism*; D018981:Congenital Disorders of Glycosylation / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D008322:Mammals / Q000378:metabolism; D008967:Molecular Biology / Q000379:methods*; D011506:Proteins / Q000378:metabolism*; D012441:Saccharomyces cerevisiae / Q000235:genetics / Q000378:metabolism; D014168:Transferrin / Q000032:analysis / Q000737:chemistry
D011506:Proteins; D014168:Transferrin