FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912278670> ?p ?o ?g. }

• W2912278670 endingPage "263" @default.
• W2912278670 startingPage "254" @default.
• W2912278670 abstract "Classic galactosemia (CG) is an autosomal recessive disorder that impacts close to 1/50000 live births in the United States, with varying prevalence in other countries. Following exposure to milk, which contains high levels of galactose, affected infants may experience rapid onset and progression of potentially lethal symptoms. With the benefit of early diagnosis, generally by newborn screening, and immediate and lifelong dietary restriction of galactose, the acute sequelae of disease can be prevented or resolved. However, long-term complications are common, and despite many decades of research, the bases of these complications remain unexplained. As a step toward defining the underlying pathophysiology of long-term outcomes in CG, we applied an untargeted metabolomic approach with mass spectrometry and dual liquid chromatography, comparing thousands of small molecules in plasma samples from 183 patients and 31 controls. All patients were on galactose-restricted diets. Using both univariate and multivariate statistical methods, we identified 252 differentially abundant features from anion exchange chromatography and 167 differentially abundant features from C18 chromatography. Mapping these discriminatory features to putative metabolites and biochemical pathways revealed 14 significantly perturbed pathways; these included multiple redox, amino acid, and mitochondrial pathways, among others. Finally, we tested whether any discriminatory features also distinguished cases with mild vs more severe long-term outcomes and found multiple candidates, of which one achieved false discovery rate-adjusted q < 0.1. These results extend substantially from prior targeted studies of metabolic perturbation in CG and offer a new approach to identifying candidate modifiers and targets for intervention." @default.
• W2912278670 created "2019-02-21" @default.
• W2912278670 creator A5032696320 @default.
• W2912278670 creator A5033056599 @default.
• W2912278670 creator A5033789712 @default.
• W2912278670 creator A5035904189 @default.
• W2912278670 creator A5071368727 @default.
• W2912278670 creator A5087661235 @default.
• W2912278670 date "2019-01-22" @default.
• W2912278670 modified "2023-10-17" @default.
• W2912278670 title "Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study" @default.
• W2912278670 cites W1456625250 @default.
• W2912278670 cites W1551732699 @default.
• W2912278670 cites W1973467002 @default.
• W2912278670 cites W1982131709 @default.
• W2912278670 cites W1996353320 @default.
• W2912278670 cites W1996972802 @default.
• W2912278670 cites W2000113718 @default.
• W2912278670 cites W2002856321 @default.
• W2912278670 cites W2012660994 @default.
• W2912278670 cites W2020493085 @default.
• W2912278670 cites W2025701648 @default.
• W2912278670 cites W2025944550 @default.
• W2912278670 cites W2027920182 @default.
• W2912278670 cites W2032047739 @default.
• W2912278670 cites W2033826009 @default.
• W2912278670 cites W2040109827 @default.
• W2912278670 cites W2073503722 @default.
• W2912278670 cites W2079653969 @default.
• W2912278670 cites W2089020104 @default.
• W2912278670 cites W2096356422 @default.
• W2912278670 cites W2107665951 @default.
• W2912278670 cites W2110065044 @default.
• W2912278670 cites W2130319566 @default.
• W2912278670 cites W2137735786 @default.
• W2912278670 cites W2149170067 @default.
• W2912278670 cites W2164539112 @default.
• W2912278670 cites W2165681080 @default.
• W2912278670 cites W2165878138 @default.
• W2912278670 cites W2178015804 @default.
• W2912278670 cites W2322580831 @default.
• W2912278670 cites W2528241418 @default.
• W2912278670 cites W2561291010 @default.
• W2912278670 cites W2748998360 @default.
• W2912278670 cites W2790080547 @default.
• W2912278670 cites W2800368226 @default.
• W2912278670 cites W3188600094 @default.
• W2912278670 doi "https://doi.org/10.1002/jimd.12007" @default.
• W2912278670 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6414239" @default.
• W2912278670 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30667068" @default.
• W2912278670 hasPublicationYear "2019" @default.
• W2912278670 type Work @default.
• W2912278670 sameAs 2912278670 @default.
• W2912278670 citedByCount "9" @default.
• W2912278670 countsByYear W29122786702019 @default.
• W2912278670 countsByYear W29122786702020 @default.
• W2912278670 countsByYear W29122786702021 @default.
• W2912278670 countsByYear W29122786702022 @default.
• W2912278670 countsByYear W29122786702023 @default.
• W2912278670 crossrefType "journal-article" @default.
• W2912278670 hasAuthorship W2912278670A5032696320 @default.
• W2912278670 hasAuthorship W2912278670A5033056599 @default.
• W2912278670 hasAuthorship W2912278670A5033789712 @default.
• W2912278670 hasAuthorship W2912278670A5035904189 @default.
• W2912278670 hasAuthorship W2912278670A5071368727 @default.
• W2912278670 hasAuthorship W2912278670A5087661235 @default.
• W2912278670 hasBestOaLocation W29122786702 @default.
• W2912278670 hasConcept C126322002 @default.
• W2912278670 hasConcept C192989942 @default.
• W2912278670 hasConcept C21565614 @default.
• W2912278670 hasConcept C2776169613 @default.
• W2912278670 hasConcept C2778173381 @default.
• W2912278670 hasConcept C2779274956 @default.
• W2912278670 hasConcept C54355233 @default.
• W2912278670 hasConcept C55493867 @default.
• W2912278670 hasConcept C60644358 @default.
• W2912278670 hasConcept C62231903 @default.
• W2912278670 hasConcept C71924100 @default.
• W2912278670 hasConcept C86803240 @default.
• W2912278670 hasConceptScore W2912278670C126322002 @default.
• W2912278670 hasConceptScore W2912278670C192989942 @default.
• W2912278670 hasConceptScore W2912278670C21565614 @default.
• W2912278670 hasConceptScore W2912278670C2776169613 @default.
• W2912278670 hasConceptScore W2912278670C2778173381 @default.
• W2912278670 hasConceptScore W2912278670C2779274956 @default.
• W2912278670 hasConceptScore W2912278670C54355233 @default.
• W2912278670 hasConceptScore W2912278670C55493867 @default.
• W2912278670 hasConceptScore W2912278670C60644358 @default.
• W2912278670 hasConceptScore W2912278670C62231903 @default.
• W2912278670 hasConceptScore W2912278670C71924100 @default.
• W2912278670 hasConceptScore W2912278670C86803240 @default.
• W2912278670 hasFunder F4320332161 @default.
• W2912278670 hasFunder F4320337357 @default.
• W2912278670 hasFunder F4320337361 @default.
• W2912278670 hasIssue "2" @default.
• W2912278670 hasLocation W29122786701 @default.
• W2912278670 hasLocation W29122786702 @default.
• W2912278670 hasLocation W29122786703 @default.

• next