A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodoli...
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity
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Publisher
England: BioMed Central
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Language
English
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Publisher
England: BioMed Central
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Scope and Contents
Contents
Type I congenital disorders of glycosylation (CDG-I) are mostly complex multisystemic diseases associated with hypoglycosylated serum glycoproteins. A subgroup harbour mutations in genes necessary for the biosynthesis of the dolichol-linked oligosaccharide (DLO) precursor that is essential for protein N-glycosylation. Here, our objective was to ide...
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Full title
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4919849
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4919849
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-016-0468-1
