Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I)

M. Jackson,P. Clayton,S. Grunewald,G. Keir, K. Mills,P. Mills,B. Winchester, V. Worthington,E. Young

Journal of Inherited Metabolic Disease（2005）

引用 12|浏览12

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摘要

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).

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Public Health,Internal Medicine,Congenital Disorder,Metabolic Disease,Single Case

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