Thiel, Christian

Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. [electronic resource] - Human mutation Mar 2012 - 485-7 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.22019 doi


Child
Child, Preschool
Congenital Disorders of Glycosylation--enzymology
Dolichols--chemistry
Female
Glycosylation
Humans
Male
Mannosyltransferases--genetics
Oligosaccharides--chemistry