Carbohydrate-deficient glycoprotein synd
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de Michelena, Maria Isabel; Franchi, Luis Miguel; Summers, Percy G.; De La Fuent
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Article
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1999
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John Wiley and Sons
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English
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The carbohydrate-deficient glycoprotein syndromes (CDGS) make up a recently delineated group of inherited metabolic diseases that are characterized by a reduction of the carbohydrate content of glycoproteins. They were first described by Jaeken in two sisters in 1980, but it was only after a second