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Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I)
Author(s) -
Jackson M.,
Clayton P.,
Grunewald S.,
Keir G.,
Mills K.,
Mills P.,
Winchester B.,
Worthington V.,
Young E.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0157-z
Subject(s) - glycosylation , medicine , endocrinology , human genetics , plasma levels , gastroenterology , biology , genetics , gene
Summary Elevated plasma aspartylglucosaminidase activity was found in 21/25 cases of CDG Ia, in single cases of CDG Ib, Ic and If, and in 15/16 cases of CDG Ix. The CDG I patients in whom the activity was not raised were either atypical clinically (CDG Ia) or very young (CDG Ih).