Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.
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
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