Matches in SemOpenAlex for { <https://semopenalex.org/work/W2140543942> ?p ?o ?g. }
- W2140543942 endingPage "781" @default.
- W2140543942 startingPage "776" @default.
- W2140543942 abstract "We report on 8 patients with a recently described novel subtype of congenital disorder of glycosylation type Ic (CDG-Ic). Their clinical presentation was mainly neurological with developmental retardation, muscular hypotonia, and epilepsy. Several symptoms commonly seen in CDG-Ia such as inverted nipples, abnormal fat distribution, and cerebellar hypoplasia were not observed. The clinical course is milder overall, with a better neurological outcome, than in CDG-Ia. The isoelectric focusing pattern of serum transferrin in CDG-Ia and CDG-Ic is indistinguishable. Interestingly, beta-trace protein in cerebrospinal fluid derived from immunoblot analysis of the brain showed a less pronounced hypoglycosylation pattern in CDG-Ic patients than in CDG-Ia patients. Analysis of lipid-linked oligosaccharides revealed an accumulation of Man9GlcNAc2 intermediates due to dolichol pyrophosphate-Man9GlcNAc2 alpha-1,3 glucosyltransferase deficiency. All patients were homozygous for an A333V mutation." @default.
- W2140543942 created "2016-06-24" @default.
- W2140543942 creator A5007621031 @default.
- W2140543942 creator A5015206439 @default.
- W2140543942 creator A5015888784 @default.
- W2140543942 creator A5019967690 @default.
- W2140543942 creator A5021031261 @default.
- W2140543942 creator A5036688837 @default.
- W2140543942 creator A5045187784 @default.
- W2140543942 creator A5048119231 @default.
- W2140543942 creator A5049026712 @default.
- W2140543942 creator A5051053838 @default.
- W2140543942 creator A5054797460 @default.
- W2140543942 creator A5071407639 @default.
- W2140543942 creator A5072966035 @default.
- W2140543942 creator A5091663656 @default.
- W2140543942 date "2000-06-01" @default.
- W2140543942 modified "2023-09-23" @default.
- W2140543942 title "Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis" @default.
- W2140543942 cites W1663207167 @default.
- W2140543942 cites W1871612997 @default.
- W2140543942 cites W1970122244 @default.
- W2140543942 cites W1972860853 @default.
- W2140543942 cites W1974249763 @default.
- W2140543942 cites W1976276323 @default.
- W2140543942 cites W1978649512 @default.
- W2140543942 cites W1985543498 @default.
- W2140543942 cites W1986389110 @default.
- W2140543942 cites W1987438311 @default.
- W2140543942 cites W1999425810 @default.
- W2140543942 cites W2005455329 @default.
- W2140543942 cites W2011770757 @default.
- W2140543942 cites W2028736792 @default.
- W2140543942 cites W2033923444 @default.
- W2140543942 cites W2046774615 @default.
- W2140543942 cites W2047003350 @default.
- W2140543942 cites W2055486045 @default.
- W2140543942 cites W2057135594 @default.
- W2140543942 cites W2065940616 @default.
- W2140543942 cites W2069254324 @default.
- W2140543942 cites W2085229908 @default.
- W2140543942 cites W2085263855 @default.
- W2140543942 cites W2090024619 @default.
- W2140543942 cites W2093647941 @default.
- W2140543942 cites W2122509446 @default.
- W2140543942 cites W2168858828 @default.
- W2140543942 doi "https://doi.org/10.1002/1531-8249(200006)47:6<776::aid-ana10>3.0.co;2-5" @default.
- W2140543942 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10852543" @default.
- W2140543942 hasPublicationYear "2000" @default.
- W2140543942 type Work @default.
- W2140543942 sameAs 2140543942 @default.
- W2140543942 citedByCount "62" @default.
- W2140543942 countsByYear W21405439422012 @default.
- W2140543942 countsByYear W21405439422013 @default.
- W2140543942 countsByYear W21405439422014 @default.
- W2140543942 countsByYear W21405439422016 @default.
- W2140543942 countsByYear W21405439422018 @default.
- W2140543942 countsByYear W21405439422019 @default.
- W2140543942 countsByYear W21405439422022 @default.
- W2140543942 countsByYear W21405439422023 @default.
- W2140543942 crossrefType "journal-article" @default.
- W2140543942 hasAuthorship W2140543942A5007621031 @default.
- W2140543942 hasAuthorship W2140543942A5015206439 @default.
- W2140543942 hasAuthorship W2140543942A5015888784 @default.
- W2140543942 hasAuthorship W2140543942A5019967690 @default.
- W2140543942 hasAuthorship W2140543942A5021031261 @default.
- W2140543942 hasAuthorship W2140543942A5036688837 @default.
- W2140543942 hasAuthorship W2140543942A5045187784 @default.
- W2140543942 hasAuthorship W2140543942A5048119231 @default.
- W2140543942 hasAuthorship W2140543942A5049026712 @default.
- W2140543942 hasAuthorship W2140543942A5051053838 @default.
- W2140543942 hasAuthorship W2140543942A5054797460 @default.
- W2140543942 hasAuthorship W2140543942A5071407639 @default.
- W2140543942 hasAuthorship W2140543942A5072966035 @default.
- W2140543942 hasAuthorship W2140543942A5091663656 @default.
- W2140543942 hasConcept C118552586 @default.
- W2140543942 hasConcept C126322002 @default.
- W2140543942 hasConcept C134018914 @default.
- W2140543942 hasConcept C142724271 @default.
- W2140543942 hasConcept C158617107 @default.
- W2140543942 hasConcept C181199279 @default.
- W2140543942 hasConcept C22814914 @default.
- W2140543942 hasConcept C2777313579 @default.
- W2140543942 hasConcept C2778186239 @default.
- W2140543942 hasConcept C2779546488 @default.
- W2140543942 hasConcept C2781446604 @default.
- W2140543942 hasConcept C553450214 @default.
- W2140543942 hasConcept C55493867 @default.
- W2140543942 hasConcept C71924100 @default.
- W2140543942 hasConcept C86803240 @default.
- W2140543942 hasConceptScore W2140543942C118552586 @default.
- W2140543942 hasConceptScore W2140543942C126322002 @default.
- W2140543942 hasConceptScore W2140543942C134018914 @default.
- W2140543942 hasConceptScore W2140543942C142724271 @default.
- W2140543942 hasConceptScore W2140543942C158617107 @default.
- W2140543942 hasConceptScore W2140543942C181199279 @default.
- W2140543942 hasConceptScore W2140543942C22814914 @default.
- W2140543942 hasConceptScore W2140543942C2777313579 @default.