FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4296026431> ?p ?o ?g. }

• W4296026431 abstract "Mitochondrial long-chain fatty acid oxidation and carnitine metabolism defects are a group of inherited metabolic diseases. We performed a retrospective cohort study to report on the phenotypic and genotypic spectrum of mitochondrial long-chain fatty acid oxidation and carnitine metabolism defects as well as their treatment outcomes.All patients with mitochondrial long-chain fatty acid oxidation and carnitine metabolism defects were included. We divided patients into two groups to compare outcomes of those treated symptomatically (SymX) and asymptomatically (AsymX). We reviewed patient charts for clinical features, biochemical investigations, molecular genetic investigations, cardiac assessments, neuroimaging, treatments, and outcomes.There were 38 patients including VLCAD (n = 5), LCHAD (n = 4), CACT (n = 3), MAD (n = 1), CPT-I (n = 13), CPT-II (n = 3) deficiencies and CTD (n = 9). Fourteen patients were diagnosed symptomatically (SymX), and 24 patients were diagnosed asymptomatically (AsymX). Twenty-eight variants in seven genes were identified in 36 patients (pathogenic/likely pathogenic n = 25; variant of unknown significance n = 3). Four of those variants were novel. All patients with LCHAD deficiency had the common variant (p.Glu474Gln) in HADHA and their phenotype was similar to the patients reported in the literature for this genotype. Only one patient with VLCAD deficiency had the common p.Val283Ala in ACADVL. The different genotypes in the SymX and AsymX groups for VLCAD deficiency presented with similar phenotypes. Eight patients were treated with carnitine supplementation [CTD (n = 6), CPT-II (n = 1), and MAD (n = 1) deficiencies]. Thirteen patients were treated with a long-chain fat restricted diet and MCT supplementation. A statistically significant association was found between rhabdomyolysis, and hypoglycemia in the SymX group compared to the AsymX group. A higher number of hospital admissions, longer duration of hospital admissions and higher CK levels were observed in the SymX group, even though the symptomatic group was only 37% of the study cohort.Seven different mitochondrial long-chain fatty acid oxidation and carnitine metabolism defects were present in our study cohort. In our clinic, the prevalence of mitochondrial long-chain fatty acid oxidation and carnitine defects was 4.75%." @default.
• W4296026431 created "2022-09-17" @default.
• W4296026431 creator A5037685462 @default.
• W4296026431 creator A5045808101 @default.
• W4296026431 creator A5049389773 @default.
• W4296026431 creator A5059792344 @default.
• W4296026431 creator A5077251617 @default.
• W4296026431 creator A5083601127 @default.
• W4296026431 creator A5091155970 @default.
• W4296026431 date "2022-09-15" @default.
• W4296026431 modified "2023-09-25" @default.
• W4296026431 title "Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic" @default.
• W4296026431 cites W1972597614 @default.
• W4296026431 cites W1981143142 @default.
• W4296026431 cites W2003234345 @default.
• W4296026431 cites W2045235398 @default.
• W4296026431 cites W2050497424 @default.
• W4296026431 cites W2051978340 @default.
• W4296026431 cites W2062298512 @default.
• W4296026431 cites W2071301127 @default.
• W4296026431 cites W2073972671 @default.
• W4296026431 cites W2084023408 @default.
• W4296026431 cites W2119180172 @default.
• W4296026431 cites W2122623960 @default.
• W4296026431 cites W2175610693 @default.
• W4296026431 cites W2197721327 @default.
• W4296026431 cites W2256016639 @default.
• W4296026431 cites W2373817779 @default.
• W4296026431 cites W2405583161 @default.
• W4296026431 cites W2434929921 @default.
• W4296026431 cites W2559874283 @default.
• W4296026431 cites W2569820968 @default.
• W4296026431 cites W2611785965 @default.
• W4296026431 cites W2732538298 @default.
• W4296026431 cites W2741974679 @default.
• W4296026431 cites W2763041272 @default.
• W4296026431 cites W2780257959 @default.
• W4296026431 cites W2790629443 @default.
• W4296026431 cites W2809789630 @default.
• W4296026431 cites W2891997623 @default.
• W4296026431 cites W2913907150 @default.
• W4296026431 cites W3014279602 @default.
• W4296026431 cites W3041605226 @default.
• W4296026431 cites W3047137203 @default.
• W4296026431 cites W3080376549 @default.
• W4296026431 cites W3083075215 @default.
• W4296026431 cites W3086701792 @default.
• W4296026431 cites W3088519211 @default.
• W4296026431 cites W3120758155 @default.
• W4296026431 cites W3125415253 @default.
• W4296026431 cites W3131897099 @default.
• W4296026431 cites W3194418651 @default.
• W4296026431 cites W3195210477 @default.
• W4296026431 cites W3215078512 @default.
• W4296026431 cites W4223423433 @default.
• W4296026431 cites W4225869362 @default.
• W4296026431 cites W4281702879 @default.
• W4296026431 doi "https://doi.org/10.1186/s13023-022-02512-5" @default.
• W4296026431 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36109795" @default.
• W4296026431 hasPublicationYear "2022" @default.
• W4296026431 type Work @default.
• W4296026431 citedByCount "3" @default.
• W4296026431 countsByYear W42960264312023 @default.
• W4296026431 crossrefType "journal-article" @default.
• W4296026431 hasAuthorship W4296026431A5037685462 @default.
• W4296026431 hasAuthorship W4296026431A5045808101 @default.
• W4296026431 hasAuthorship W4296026431A5049389773 @default.
• W4296026431 hasAuthorship W4296026431A5059792344 @default.
• W4296026431 hasAuthorship W4296026431A5077251617 @default.
• W4296026431 hasAuthorship W4296026431A5083601127 @default.
• W4296026431 hasAuthorship W4296026431A5091155970 @default.
• W4296026431 hasBestOaLocation W42960264311 @default.
• W4296026431 hasConcept C104317684 @default.
• W4296026431 hasConcept C126322002 @default.
• W4296026431 hasConcept C127716648 @default.
• W4296026431 hasConcept C134018914 @default.
• W4296026431 hasConcept C135763542 @default.
• W4296026431 hasConcept C2776423169 @default.
• W4296026431 hasConcept C2776991927 @default.
• W4296026431 hasConcept C2778435403 @default.
• W4296026431 hasConcept C47042493 @default.
• W4296026431 hasConcept C543025807 @default.
• W4296026431 hasConcept C54355233 @default.
• W4296026431 hasConcept C55493867 @default.
• W4296026431 hasConcept C62231903 @default.
• W4296026431 hasConcept C71924100 @default.
• W4296026431 hasConcept C82714985 @default.
• W4296026431 hasConcept C86803240 @default.
• W4296026431 hasConcept C90924648 @default.
• W4296026431 hasConceptScore W4296026431C104317684 @default.
• W4296026431 hasConceptScore W4296026431C126322002 @default.
• W4296026431 hasConceptScore W4296026431C127716648 @default.
• W4296026431 hasConceptScore W4296026431C134018914 @default.
• W4296026431 hasConceptScore W4296026431C135763542 @default.
• W4296026431 hasConceptScore W4296026431C2776423169 @default.
• W4296026431 hasConceptScore W4296026431C2776991927 @default.
• W4296026431 hasConceptScore W4296026431C2778435403 @default.
• W4296026431 hasConceptScore W4296026431C47042493 @default.
• W4296026431 hasConceptScore W4296026431C543025807 @default.
• W4296026431 hasConceptScore W4296026431C54355233 @default.

• next