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- W2017723799 endingPage "716" @default.
- W2017723799 startingPage "707" @default.
- W2017723799 abstract "Congenital disorders of glycosylation (CDG) are a group of inherited disorders caused by defects in the synthesis and processing of the linked glycans of glycoproteins and other molecules. The first patients with CDG were described in 1980. Fifteen years later, phosphomannomutase was found to be the basis of the most frequent type: CDG-Ia. Over the last years, several novel types have been identified related to the N-glycosylation pathway, affecting enzymes or transporters of the cytosol, endoplasmic reticulum or the Golgi compartment. CDGs are multisystemic disorders, mainly affecting the central nervous system. Yet CDG-Ib and Ih are mainly hepato-intestinal diseases. Recently, several defects involving the O-glycosylation pathways have been described, indicating that some congenital muscular dystrophies and neuronal migration disorders are caused by congenital disorders of glycosylation." @default.
- W2017723799 created "2016-06-24" @default.
- W2017723799 creator A5005434092 @default.
- W2017723799 creator A5034622775 @default.
- W2017723799 creator A5047969354 @default.
- W2017723799 date "2004-01-01" @default.
- W2017723799 modified "2023-10-03" @default.
- W2017723799 title "Defectos congénitos de la glucosilación: últimos avances y experiencia española" @default.
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