Article
[Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia].
Casopis lekaru ceskych - 1 Jan 2003
Honzík T, Malonová E, Hansíková H, Rosipal R, Poupĕtová H, Martásek P, Zeman J
Abstract excerpt
BACKGROUND: Congenital disorders of glycosylation (CDG syndrome) represent a newly delineated group of inherited diseases of glycoprotein synthesis. We present results of biochemical and molecular analyses in two Czech patients with CDG Ia syndrome. METHODS AND RESULTS: Serum concentrations of the nonglycosylated and hypoglycosylated transferrin were measured using turbidimetric immunoassay. In positive patients,...
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