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Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0066-y
Abstract: Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild…
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Keywords:
literature;
congenital disorders;
disorders glycosylation;
review ... See more keywords
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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23158725
Abstract: Advances in research have boosted therapy development for congenital disorders of glycosylation (CDG), a group of rare genetic disorders affecting protein and lipid glycosylation and glycosylphosphatidylinositol anchor biosynthesis. The (re)use of known drugs for novel…
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Keywords:
drug repositioning;
disorders glycosylation;
systematic review;
glycosylation cdg ... See more keywords