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Carbohydrate-deficient glycoprotein syndrome CDGS

Several sugar-nucleotide pool defects have been identified Type I carbohydrate-deficient glycoprotein syndrome (CDGs type I), a defect in phosphomannomu-tase, one of the enzymes responsible for converting glucose to GDP-mannose, results in an absence of... [Pg.308]

Congenital Disorders of Glycosylation Congenital disorders of glycosyla-tion (CDG) (previously known as carbohydrate-deficient glycoprotein syndromes) are inherited... [Pg.682]

CDG syndromes. The carbohydrate-deficient glycoprotein (CDG) syndromes are a family of genetic multisystemic diseases with severe nervous system involvement, growth retardation and hepatopathy during infancy which were first reported by Jaeken et al. [263] (for recent reviews, see refs. [264,265]). [Pg.231]

See other pages where Carbohydrate-deficient glycoprotein syndrome CDGS is mentioned: [Pg.156]    [Pg.177]    [Pg.1129]    [Pg.1143]    [Pg.1162]    [Pg.1210]    [Pg.1274]    [Pg.2051]    [Pg.156]    [Pg.177]    [Pg.1129]    [Pg.1143]    [Pg.1162]    [Pg.1210]    [Pg.1274]    [Pg.2051]    [Pg.379]    [Pg.414]    [Pg.2274]    [Pg.89]    [Pg.92]    [Pg.411]    [Pg.2]    [Pg.372]    [Pg.1230]   
See also in sourсe #XX -- [ Pg.11 , Pg.11 , Pg.154 , Pg.959 ]



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